Changing lives of those with rare disease. J. Med. Authors Schaida Schirwani 1 2 , Emily Woods 2 , David A Koolen 3 . References/Resources J. Med. The 2023 edition of ICD-10-CM Q79.8 became effective on October 1, 2022. Millie McWilliams has Bainbridge-Ropers syndrome, in which she is missing two DNA bases in the ASXL3 gene. Large-scale discovery of novel genetic causes of developmental disorders. [Full Text], Balasubramanian, M., Willoughby, J., Fry, A. E., Weber, A., Firth, H. V., Deshpande, C., Berg, J. N., Chandler, K., Metcalfe, K. A., Lam, W., Pilz, D. T., Tomkins, S., DDD Study. In 3 unrelated patients with BRPS, Srivastava et al. ICD-10 Games Learn codes with classic games like Flashcards and Hangman. Key role The ASXL3 gene plays a key role in development of the brain and the body. Its our mission to change that. This article about a disease, disorder, or medical condition is a stub. De novo nonsense variant in ASXL3 in a Chinese girl causing Bainbridge-Ropers syndrome: A case report and review of literature. The petroleum ether extract of Brassica rapa L. induces apoptosis of lung adenocarcinoma cells via the mitochondria-dependent pathway. Collaborative study for the establishment of Human immunoglobulin for anticomplementary activity BRP replacement batches 3, 4, 5 and 6. [A case of Bainbridge-Ropers syndrome with autism in conjunct with ASXL3 gene variant and its clinical analysis]. The clinical features of Bainbridge-Ropers syndrome include severe psychomotor retardation, feeding difficulties, hypotonia and specific facial features, and the heterozygous nonsense variation in ASXL3 gene is the cause. Currently GARD aims to provide the following information for this disease: Population Estimate: This section is currently in development. This region lies between the N-terminal protein scaffolding functional domains of the gene and the C-terminal chromatin/DNA-targeting functional domain. A rare, genetic, syndromic intellectual disability disorder with a variable phenotypic presentation typically characterized by microcephaly, severe feeding difficulties, failure to thrive, severe global development delay that frequently results in absent/poor speech, moderate to severe intellectual disability and hypotonia. Two forms have been identified: bardet-biedl syndrome 1 (bbs1) has no linkage to chromosome 16 bardet-biedl syndrome 2 (bbs2) is mapped to markers on chromosome 16. This syndrome has been distinguished as a separate entity from laurence-moon syndrome. Among their cohort, Balasubramanian et al. March 14, 2018 Autism, Autism Spectrum Disorder, Bainbridge-Ropers Syndrome, Dr. Robin Kochel, Genetics, Nicole Blanton, SPARK for autism. 3. Case presentation We describe an 11-year old boy . Bainbridge Roper Syndrome is a rare genetic syndrome associated with a mutation in the ASXL3 gene. A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has material basis in heterozygous mutation in the ASXL3 gene on chromosome 18q12. MR spectroscopy was normal. NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, Bainbridge-Ropers Syndrome has not been studied well enough to know what the life expectancy is for someone with Bainbridge-Ropers Syndrome. Validation of the lithuanian version of the self-evaluation of negative symptoms scale (SNS). 5: 11, 2013. Distinctive craniofacial features include prominent forehead, high-arched, thin eyebrows, hypertelorism, downslanting palpebral fissures, long, tubular nose with broad tip and prominent nasal bridge and wide mouth with full, everted lower lip. Associated manifestations should also be coded. Read more about what causes ASXL-related disorders. Scientific Director, OMIM. 11 In other cases, the mutation occurs in the fertilized egg shortly after the egg and sperm cells unite. Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate. 2. 2022 Sep 29. doi: 10.1002/ajmg.a.62981. Bainbridge-Ropers Syndrome (BRS) - zesp Bainbridge'a-Ropersa. Hum. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality). Tax ID: 82-3890665, 2023 ASXL Rare Research Endowment Foundation, Medical disclaimer Privacy policy Contact, Read more about what causes ASXL-related disorders, Bainbridge-Ropers Syndrome and ASXL3 Families support group. [Full Text]. Currently GARD aims to provide the following information for this disease: This section is currently in development. The entire sequence of an organism's genetic material is its genome. In some reported cases Cornelia de Lange syndrome was suspected due to feeding difficulties, developmental delay and eyebrow characteristics. The disorder is autosomal dominant; however, no familial transmission has been observed so far. [Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review]. [2], Diagnosis can only be made by genetic testing. Molec. for Bainbridge-Ropers Syndrome, Severe Feeding Difficulties-Failure to Thrive-Microcephaly Due to Asxl3 Deficiency Syndrome, Causative germline mutation (loss of function). An important gene associated with Bainbridge-Ropers Syndrome is ASXL3 (ASXL Transcriptional Regulator 3), and among its related pathways/superpathways are Metabolism of proteins and Malignant pleural mesothelioma. Resource(s) for Medical Professionals and Scientists on This Disease: This information is currently in development. I know it is some type of gene mutation and I found lots of information never could really decide the best code to be used. (2017) reported 12 unrelated patients with BRPS confirmed by genetic analysis. Bainbridge-Ropers Syndrome (BRS) is named after the genetic researchers who discovered the location of ASXL3 gene and documented some of the ways it affects people with the mutation. offers rare disease gene variant annotations and links to rare disease gene literature. Clinical studies are medical research involving people as participants. Patients may exhibited skeletal anomalies including scoliotic attitude, joint laxity, pectus excavatum or carinatum and ulnar deviation of wrists. In some cases, the mutation occurs in a person's egg or sperm cell but is not present in any of the person's other cells. Q87.89 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. Bainbridge-Ropers Syndrome, also known as severe feeding difficulties-failure to thrive-microcephaly due to asxl3 deficiency syndrome, is related to bohring-opitz syndrome and microcephaly. Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome. of the OMIM's operating expenses go to salary support for MD and PhD Using whole-exome and whole-genome sequencing, Bainbridge et al. Pervasive exposure of wild small mammals to legacy and currently used pesticide mixtures in arable landscapes. Brain imaging, performed in 2 patients, showed loss of white matter; 1 patient had a thin corpus callosum. (2016) identified 3 de novo heterozygous frameshift or nonsense mutations in the ASXL1 gene (615115.0005-615115.0007). Most patients presented in early infancy with feeding difficulties, poor overall growth, relative microcephaly, and hypotonia. We describe for the first time a novel heterozygous splice site mutation in B3GAT3 contributing to severe short stature, growth hormone (GH) deficiency, recurrent ketotic . This chromosomal change is sometimes written as 4p-. The following resources have been approved by our Medical and Scientific Advisors as relevant reading for families looking to learn more about Bainbridge-Ropers Syndrome: Gene Reviews: ASXL3-Related Disorder (Bainbridge-Ropers Syndrome), American Journal of Medical Genetics: Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3, American Journal of Human Genetics: Familial Bainbridge-Ropers syndrome: Report of familialASXL3inheritance and a milder phenotype, Genome Medicine: De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016). Learn about the new and revised codes for fiscal year (FY) 2023, effective October 1, 2022. Online ahead of print. For example, X98.6 (ICD-10 code) will become 0X98.60. Over 90% Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizures and hyperventilation. Find resources for patients and caregivers that address the challenges of living with a rare disease. P.O. Read more about what causes ASXL-related disorders There has been limited research on Bainbridge-Ropers Syndrome and the other two ASXL syndromes (ASXL1/Bohring-Opitz Syndrome and ASXL2/Shashi-Pena Syndrome). Table of Contents. Bainbridge-Ropers syndrome (BRPS; OMIM:615485) was first described in 2013 and is characterized by failure to thrive, feeding problems, hypotonia, intellectual disability (ID), autism, postnatal growth retardation, abnormal facial features with arched eyebrows, anteverted nares and delays in language acquisition [ 1 ]. The authors noted that the mutations reported by Bainbridge et al. Organizations: GARD is not currently aware of . 4. The mutation happens randomly and is not usually inherited from parents. Bainbridge et al. Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes. Rare Diseases Resources for Refugees/Displaced Persons, section General Data Protection Regulation and data privacy (GDPR) and Confidentiality), Orphan designation(s) and orphan drug(s) (0). Dziedziczenie Przyczyn zespou mog by mutacje nonsensowne i missensowne genu ASXL3 zlokalizowanego na ramieniu dugim chromosomu 18 (18q12.1). Audiology; Speech-Language Pathology; ICD-10-CM Code Lists (updated October 1, 2022) Audiology and SLP related disorders have been culled from approximately 68,000 codes into manageable, discipline-specific lists. [citation needed], There is no currently known treatment or cure for this condition. A syndrome characterized mainly by obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism, and renal failure in fatal cases. As genetic testing becomes more widely accessible, we are learning of more people who have been living undiagnosed with Bainbridge-Ropers Syndrome for many years. The fourth subject also had anteverted nares but had less severe psychomotor retardation and normal growth. Thank you in advance for your generous support, [Analysis of clinical feature and genetic variants in two Chinese pedigrees affected with Bainbridge-Ropers syndrome]. Driving Simulator Brake Reaction Parameters After Total Hip Arthroplasty According to Different Surgical Approaches. Case report : a novel ASXL3 gene variant in a Sudanese boy. Given the multisystemic involvement, multidisciplinary follow-up is needed and should include neurological follow up, developmental assessments, physiotherapy (particularly for joint laxity and musculoskeletal issues), feeding interventions for those with persistent feeding issues, and ophthalmologic follow up for patients with strabismus and/or refractive error. Clinical Features Her brother, Archer, wanted to. Bainbridge MN, Hu H, Muzny DM, Musante L, Lupski JR, Graham BH, Chen W, Gripp KW, Jenny K, Wienker TF, Yang Y, Sutton VR, Gibbs RA, Ropers HH. The patients were ascertained from the Deciphering Developmental Disorders (DDD) project, and the mutations were found by whole-exome sequencing and confirmed by Sanger sequencing. Feeding difficulties requiring support are frequent. Hi, my name is Leo, and I have Bainbridge-Ropers Syndrome . There are no ASXL-specific therapeutics or treatments to address the underlying cause of Bainbridge-Ropers Syndrome. The objective of this study is to describe the comorbid psychiatric aspects of BRPS. Copyright 1996-2023 , Weizmann Institute of Science. All had delayed psychomotor development with moderate to profound intellectual disability and delayed walking. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. We hope you find it helpful, and thanks for stopping by! Box 4662Portland, ME [email protected], We are recognized in the United States as a 501(c)3 nonprofit organization. How a US teen developed an app to help his sister talk Della has a rare genetic condition called Bainbridge-Ropers Syndrome which affects her ability to speak. 5. Bainbridge-Roper syndrome (BRS) - Bainbridge-Roper syndrome is a congenital and developmental disorder caused by mutations in the ASXL3 gene, similar to the gene that causes BOS. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. All had feeding difficulties necessitating a feeding tube, failure to thrive, hypotonia, and developmental delay with absent speech and poor or absent independent walking. Code annotations containing back-references to, This is the American ICD-10-CM version of, Codes from this chapter are not for use on maternal records, Congenital absence of bilateral pectoral muscles, Congenital absence of left pectoral muscle, Congenital absence of right pectoral muscle, Congenital contracture of bilateral gastrocnemius, Congenital contracture of gastrocnemius muscle, Congenital contracture of left gastrocnemius, Congenital contracture of left gastrocnemius muscle, Congenital contracture of right gastrocnemius, Congenital contracture of right gastrocnemius muscle, Nail-patella syndrome, hereditary osteoonychodysplasia. Phone: 617-249-7300, Danbury, CT office Whole-Exome Sequencing Identifies Novel Recurrent Somatic Mutations in Sporadic Parathyroid Adenomas. OMIM: 57 Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016). 2023-03-04. 25: 597-608, 2016. A human homolog of Additional sex combs, ADDITIONAL SEX COMBS-LIKE 1, maps to chromosome 20q11. De novo frameshift mutation in ASXL3 in a patient with global developmental delay, microcephaly, and craniofacial anomalies. "De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome", "What is a gene mutation and how do mutations occur? De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Select the true statements about Millie and her syndrome. 57 These 2023 ICD-10-CM codes are to be used for discharges occurring from October 1, 2022 through September 30, 2023 and for patient encounters occurring from October 1, 2022 through September 30, 2023. Downs SM, van Dyck PC, Rinaldo P, et al. Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay. Phenotypic characterization of an older adult male with late-onset epilepsy and a novel mutation in ASXL3 shows overlap with the associated Bainbridge-Ropers syndrome. 15. [Full Text: https://doi.org/10.1186/gm415], Balasubramanian, M., Willoughby, J., Fry, A. E., Weber, A., Firth, H. V., Deshpande, C., Berg, J. N., Chandler, K., Metcalfe, K. A., Lam, W., Pilz, D. T., Tomkins, S., DDD Study. [PubMed: 28100473, related citations] (615485) (Updated 08-Dec-2022) Participants with a disease may participate to help others, but also to possibly receive the newest treatment and additional care from clinical study staff. This is the American ICD-10-CM version of Q79.8 - other international versions of ICD-10 Q79.8 may differ. About ; Statistics . Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease. There were no phenotypic differences between patients with mutations in the different cluster regions. Anyone from the U.S. can register with this free program funded by NIH. By continuing to use this website, you agree to the Terms of Service & Privacy Policy, A Podcast For The Rare Disease Community, Policy Statements & Letters to Policymakers. The mutation happens randomly and is not usually inherited from parents. BAP1/ASXL1 recruitment and activation for H2A deubiquitination. Affiliated tissues include brain, eye and smooth muscle, and related phenotypes are global developmental delay and feeding difficulties in infancy. ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy. Three of the subjects had similar clinical histories, including severe psychomotor retardation, feeding problems, severe postnatal growth retardation, arched eyebrows, anteverted nares, and ulnar deviation of the hands. Find resources for patients and caregivers that address the challenges of living with a rare disease, Learn more about the different types of clinical studies, ResearchMatch helps connect people interested in research studies, UMLSVocabulary Standards and Mappings Downloads, Access aggregated data from Orphanet at Orphadata, National Center for Biotechnology Information's, Newborn Screening Coding and Terminology Guide, Improving newborn screening laboratory test ordering and result reporting using health information exchange, Health Literacy Online: A Guide for Simplifying the User Experience, U.S. Department of Health & Human Services, National Center for Advancing Translation Sciences, Ways to connect to others and share personal stories, Up-to-date treatment and research information, Lists of specialistsor specialty centers. Short description: Oth congenital malformation syndromes, NEC, This is the American ICD-10-CM version of, Codes from this chapter are not for use on maternal records, code(s) to identify all associated manifestations. It is also important to counsel affected families about the possibility of recurrence due to germline mosaicism. Donations are tax deductible to the fullest extent of the law. Please note that NORD provides this information for the benefit of the rare disease community. Three patients had a marfanoid habitus with arachnodactyly, tall stature, pes planus, and scoliosis. Use ClincalTrials.gov button below to search for studies by disease, terms, or country. Please contact GARD if you need help finding additional information or resources on rare diseases, including clinical studies. Our mission is to inform the healthcare community about the diagnosis and management of rare diseases. Reference: Data from the Newborn Screening Codingand Terminology Guide is available here. ICD-10-CM Diagnosis Code S14.147D ; Search Results. 54: 537-543, 2017. Gene sequencing is required to confirm a diagnosis of Bainbridge-Ropers Syndrome. The clinic also follows patients with other chromatin-related disorders including but not limited to Kabuki Syndrome, Rubinstein-Taybi Syndrome, Wolf-Hirschhorn Syndrome, Coffin-Siris Syndrome, and Nicolaides-Baraitser . UniProtKB/Swiss-Prot: For Patients & Caregivers For Organizations For Clinicians & Researchers Sign Up for NORD News National Organization for Rare Disorders (NORD) 1900 Crown Colony Drive Suite 310 Quincy, MA 02169 Phone: 617-249-7300 Other Locations: Danbury, CT office 55 Kenosia Avenue Copyright 2023 NORD National Organization for Rare Disorders, Inc. All rights reserved. Many rare diseases have limited information. In 2022, the ICD codes will change again with the addition of two numbersone that precedes the letter and one that comes at the end. 04/10/2018 Edit History: joanna : 08/20/2021 joanna : 08/20/2021 joanna : 05/11/2018 ckniffin : 04/11/2018 . Affected individuals may also display autistic features. and by advanced students in science and medicine. (from j med genet 1997 feb;34(2):92-8). Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes. medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions. 615485 - BAINBRIDGE-ROPERS SYNDROME; BRPS Toggle navigation . seizure control) as warranted. This grassroots group now has over 1,110 members from around the world. Unique, an organization that provides information on rare disorders, has a downloadable document about Bainbridge-Ropers Syndrome. De novo mutations may explain genetic disorders in which an affected child has a mutation in every cell in the body but the parents do not, and there is no family history of the disorder. Familial Bainbridge-Ropers syndrome: Report of familial ASXL3 inheritance and a milder phenotype Am J Med Genet A. Unlike ASXL1 and ASXL2 mutations, ASXL3 mutations are rare events in acute myeloid leukemia with t(8;21). Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome. B3GAT3 , encoding -1,3-glucuronyltransferase 3, has an important role in proteoglycan biosynthesis. Synonym (s): BOS syndrome Bohring syndrome C-like syndrome Oberklaid-Danks syndrome Opitz trigonocephaly-like syndrome Prevalence: <1 / 1 000 000 Inheritance: Autosomal dominant Age of onset: Antenatal, Neonatal ICD-10: Q87.8 OMIM: 605039 UMLS: C0796232 MeSH: - GARD: 10140 MedDRA: - Summary Epidemiology This free tool is designed to help billers and coders navigate the new ICD-10-CM code set. An autosomal recessive disorder characterized by retinitis pigmentosa; polydactyly; obesity; mental retardation; hypogenitalism; renal dysplasia; and short stature. Symptoms ASXL3-related syndrome can affect communication, social, and learning skills. ASXL3/Bainbridge-Ropers Syndrome For more information, visit GARD. Bainbridge-Ropers syndrome (BRPS) is a developmental disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features (summary by Srivastava et al., 2016). [PubMed: 23383720] A syndrome which is characterized by symbrachydactyly and aplasia of the sternal head of pectoralis major. Treatment of Self-Injury in Bainbridge-Ropers Syndrome: Replication and Extensions of Behavioral Assessments. Experts Stephanie Bielas, PhD (University of Michigan) and Wendy Chung, MD, PhD (Columbia University) provide a research and clinical overview of Bainbridge-Ropers Syndrome for families. The MalaCards human disease database index: See all MalaCards categories (disease lists), Congenital malformations, deformations and chromosomal abnormalities, Other specified congenital malformation syndromes affecting multiple systems, Congenital malformation syndromes predominantly affecting facial appearance, congenital hemidysplasia with ichthyosiform erythroderma and limb defects, contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a, attention deficit-hyperactivity disorder 3, cerebellar atrophy, developmental delay, and seizures, epilepsy with generalized tonic-clonic seizures, core binding factor acute myeloid leukemia, congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay, autosomal dominant intellectual developmental disorder, microcephaly 11, primary, autosomal recessive, microcephaly 5, primary, autosomal recessive, RUNX1 interacts with co-factors whose precise effect on RUNX1 targets is not known, abnormal cerebral white matter morphology, Clinical Registry for ASXL-Related Disorders and Disorders of Chromatin Remodeling, Activator Of Transcription And Developmental Regulator AUTS2, O-Linked N-Acetylglucosamine (GlcNAc) Transferase, Progesterone Immunomodulatory Binding Factor 1, NM_030632.3(ASXL3):c.1210C>T (p.Gln404Ter), NM_030632.3(ASXL3):c.1396C>T (p.Gln466Ter), NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs), NM_030632.3(ASXL3):c.1422dup (p.Glu475Ter), NM_030632.3(ASXL3):c.1192_1195del (p.Thr398fs), NM_030632.3(ASXL3):c.1682C>A (p.Ser561Ter), NM_030632.3(ASXL3):c.1961dup (p.Ser654_Ser655insTer), NM_030632.3(ASXL3):c.3106C>T (p.Arg1036Ter), NM_030632.3(ASXL3):c.3464C>A (p.Ser1155Ter), NM_030632.3(ASXL3):c.3364C>T (p.Gln1122Ter), NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter), NM_030632.3(ASXL3):c.1448dup (p.Thr484fs), NM_030632.3(ASXL3):c.4144C>T (p.Gln1382Ter), NM_030632.3(ASXL3):c.1500del (p.Glu500fs), NM_030632.3(ASXL3):c.1351C>T (p.Gln451Ter), NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs), NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu), NM_030632.3(ASXL3):c.1884_1885del (p.Gly629fs), NM_030632.3(ASXL3):c.3330_3333dup (p.Ala1112fs), NM_030632.3(ASXL3):c.3494_3495del (p.Asn1164_Cys1165insTer), NM_030632.3(ASXL3):c.3827_3830dup (p.Asn1278fs), GRCh37/hg19 3p24.1-23(chr3:30863773-31433693)x1, NM_030632.3(ASXL3):c.4322C>G (p.Ser1441Ter), NM_030632.3(ASXL3):c.4164dup (p.Thr1389fs), NM_030632.3(ASXL3):c.1354del (p.Glu452fs), NM_030632.3(ASXL3):c.4211_4212del (p.Thr1404fs), NM_030632.3(ASXL3):c.1738G>T (p.Glu580Ter), NM_030632.3(ASXL3):c.4904dup (p.Gln1636fs), NM_030632.3(ASXL3):c.3964C>T (p.Gln1322Ter), NM_030632.3(ASXL3):c.4399C>T (p.Arg1467Ter), NM_030632.3(ASXL3):c.1535T>A (p.Leu512Ter), NM_030632.3(ASXL3):c.1189C>T (p.Gln397Ter), NM_030632.3(ASXL3):c.4219_4220del (p.Leu1407fs), NM_030632.3(ASXL3):c.4087_4088delinsG (p.Met1363fs), NM_030632.3(ASXL3):c.1821del (p.Ala606_Cys607insTer), NM_030632.3(ASXL3):c.4509_4513dup (p.Val1505fs), NM_030632.3(ASXL3):c.3621dup (p.Pro1208fs), NM_030632.3(ASXL3):c.1444del (p.Ser482fs), NM_030632.3(ASXL3):c.3049del (p.Ser1017fs), NM_030632.3(ASXL3):c.5819del (p.Gly1940fs), NM_030632.3(ASXL3):c.1479_1480del (p.Pro494fs), NM_030632.3(ASXL3):c.1939dup (p.Thr647fs), NM_030632.3(ASXL3):c.1207C>T (p.Gln403Ter), NM_030632.3(ASXL3):c.3315_3318del (p.Thr1106fs), NM_030632.3(ASXL3):c.3137_3144del (p.Gly1046fs), NM_030632.3(ASXL3):c.1269C>A (p.Cys423Ter), NM_030632.3(ASXL3):c.1864dup (p.Cys622fs), NM_030632.3(ASXL3):c.4899T>A (p.Tyr1633Ter), positive regulation of transcription by RNA polymerase II, peroxisome proliferator activated receptor binding.