There were no phenotypic differences between patients with mutations in the different cluster regions. (2017) identified 12 different de novo heterozygous nonsense or frameshift mutations in the ASXL3 gene (see, e.g., 615115.0006 and 615115.0008). This is the American ICD-10-CM version of Q79.8 - other international versions of ICD-10 Q79.8 may differ. Three patients had controlled seizures and several had sleep problems. SNOMEDCT: 773400009; The disorder is due to loss of function mutations in ASXL3 gene (18q12.1). 140 (2018) 166-170]. and by advanced students in science and medicine. Symptoms of global development delay include hypotonia, delay in achieving independent sitting and walking, and marked language delay. of the OMIM's operating expenses go to salary support for MD and PhD This chromosomal change is sometimes written as 4p-. P.O. To find the right clinical study we recommend you: ResearchMatch helps connect people interested in research studieswith researchers from top medical centers across the United States. Expert curators Phone: 617-249-7300, Danbury, CT office Q79.8 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. Bainbridge-Ropers syndrome (BRPS) is a recently described developmental disorder caused by de novo truncating mutations in ASXL3 gene. About ASXL3 & BRS | mysite 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 . The disorder is autosomal dominant; however, no familial transmission has been observed so far. New Codes for Cytokine Release Syndrome (CRS) - Find-A-Code This by far is I find is one of the hardest things I have tried to find correct code for. ICD-10-CM instructional notes specify that any underlying cause (e.g., complications following infusion and therapeutic injection [ T80.89 -], complications of transplanted organs and tissue [ T86.- ]) should be coded before using these new D89.83 - codes. 25: 597-608, 2016. Update List ; Entry Statistics ; Phenotype-Gene Statistics ; Downloads . The two best things you can do to advance research into Bainbridge-Ropers Syndrome are, participate in the registry and biobank and. BainbridgeRopers syndrome is a very rare genetic disorder characterized by abnormalities including severe psychomotor development, feeding problems, severe postnatal growth delays, intellectual disabilities, and skeletal abnormalities. Clinical application of whole-exome sequencing across clinical indications. Large-scale discovery of novel genetic causes of developmental disorders. BRS is a result of an ASXL3 gene mutation, located on chromosome 18. [Full Text: https://doi.org/10.1136/jmedgenet-2016-104360], Srivastava, A., Ritesh, K. C., Tsan, Y.-C., Liao, R., Su, F., Cao, X., Hannibal, M. C., Keegan, C. E., Chinnaiyan, A. M., Martin, D. M., Bielas, S. L. Danbury, CT 06810 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. Were funding research grants and we support the ASXL Patient Registry and Biobank. [Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with Bainbridge-Ropers syndrome]. J. Med. 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). Three patients had a marfanoid habitus with arachnodactyly, tall stature, pes planus, and scoliosis. DO: 0080893; Bainbridge, M. N., Hu, H., Muzny, D. M., Musante, L., Lupski, J. R., Graham, B. H., Chen, W., Gripp, K. W., Jenny, K., Wienker, T. F., Yang, Y., Sutton, V. R., Gibbs, R. A., Ropers, H. H. Copyright 1996-2023 , Weizmann Institute of Science. 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. MalaCards based summary: The documents contained in this web site are presented for information purposes only. 1.4K members Join group About Discussion More About Discussion About this group This page is dedicated to families with children who have Bainbridge Ropers-Syndrome and ASXL3 genetic mutation. Donations are tax deductible to the fullest extent of the law. A rare developmental disorder characterized by underdevelopment or absence of the pectoralis muscle in one side of the chest, usually associated with ipsilateral cutaneous syndactyly, and ipsilateral breast and nipple hypoplasia. We also believe there are many people living undiagnosed. Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. We are determined to keep this website freely Transcriptome analysis of these cells showed dysregulation of many genes, including those involved in transcriptional regulation, development, and proliferation, as well as in digestive tract development. The objective of this study is to describe the comorbid psychiatric aspects of BRPS. Bainbridge-Ropers Syndrome has not been studied well enough to know what the life expectancy is for someone with Bainbridge-Ropers Syndrome. Caitlin Calder, a parent of a child with Bainbridge-Ropers Syndrome, created the Bainbridge-Ropers Syndrome and ASXL3 Families support group as a private Facebook page in 2014 with just a handful of members. Two patients were nonambulatory and 9 were nonverbal. 57 Unfortunately, it is not free to produce. (615485) (Updated 08-Dec-2022). offers rare disease gene variant annotations and links to rare disease gene literature. 1779 Massachusetts Avenue You can help Wikipedia by expanding it. 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. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Novel de novo frameshift variant in the ASXL3 gene in a child with microcephaly and global developmental delay. Entry - #615485 - BAINBRIDGE-ROPERS SYNDROME; BRPS - OMIM Q87.89 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes. Morphological features of this syndrome include:[1], This condition is caused by a mutation in the ASXL3 gene, which is considered a de novo mutation. Bainbridge-Ropers syndrome is a very rare genetic disorder characterized by abnormalities including severe psychomotor development, feeding problems, severe postnatal growth delays, intellectual disabilities, and skeletal abnormalities. You are using an out of date browser. Feeding difficulties requiring support are frequent. component of our efforts to ensure long-term funding to provide you the View CNBC interview with NORDs Peter Saltonstall and Boston Childrens Dr. Olaf Bodamer emphasizing the importance of investment in rare diseases. I would love to see what help anyone can provide. 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. There is no definitive antenatal diagnosis available, however ultrasound may show intrauterine growth retardation which should be investigated further. Table of Contents. Genome Med. This patient had mild global hypotonia, normal growth, and global developmental delay with . Many rare diseases have limited information. 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. De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome. Applicable To Absence of muscle Absence of tendon It affects parts of the body including the spinal cord, liver, kidneys, and bone marrow. Bainbridge-Ropers syndrome is a very rare genetic disorder characterized by abnormalities including more Search Phone: 203-263-9938 Interventions may include intensive therapy, surgeries, and medication (i.e. Select the true statements about Millie and her syndrome. [3], Mutations in the Additional Sex Combs Like 3 (ASXL3) gene on the long arm of chromosome 18 (18q12.1) have been associated with this condition. NORD is not a medical provider or health care facility and thus can neither diagnose any disease or disorder nor endorse or recommend any specific medical treatments. They had variable dysmorphic features, including arched eyebrows, downslanting palpebral fissures, broad nasal bridge with short nose and anteverted nares, low-set ears, and small chin. [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. Affiliated tissues include brain, eye and smooth muscle, and related phenotypes are global developmental delay and feeding difficulties in infancy. Molec. NIH Clinical Center ASXL3 De Novo Variant-Related Neurodevelopmental Disorder Presenting as Dystonic Cerebral Palsy. Other frequent gastrointestinal features include gastroesophageal reflux and constipation. As the fertilized egg divides, each resulting cell in the growing embryo will have the mutation. (2013) identified a de novo heterozygous 4-bp deletion in the ASXL3 gene resulting in frameshift and premature termination (g.31319343_31319346delACAG, Thr659FsTer41). science writers and biocurators. 55 Kenosia Avenue 54: 537-543, 2017. [PubMed: 28100473, related citations] Further expanding the clinical phenotype in Bainbridge-Ropers syndrome [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. 3. Symptoms: This section is currently in development. 80816 - Gene ResultASXL3 ASXL transcriptional regulator 3 [ (human)] The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. Stay Informed With NORDs Email Newsletter, Launching Registries & Natural History Studies, Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome. A case of Bainbridge-Ropers syndrome with breath holding spells and intractable epilepsy: challenges in diagnosis and management. Skeletal abnormalities, such as a "barrel chest", extremely high arched palate, This page was last edited on 13 February 2023, at 07:14. [citation needed], There is no currently known treatment or cure for this condition. 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. seizure control) as warranted. Functional studies of the variants and studies of patient cells were not performed, but all were predicted to result in a loss of function. For all other comments, please send your remarks via contact us. Mosaicism in ASXL3-related syndrome: Description of five patients from three families. Validation of the lithuanian version of the self-evaluation of negative symptoms scale (SNS). One copy of Millie's ASXL3 gene is missing two DNA bases, creating an inappropriate "stop" codon and shortening the encoded proteins. (2016) reported 3 unrelated patients with BRPS. Expert reviewer(s): Dr Irene VALENZUELA PALAFOLL | ITHACA* - Last update: March 2021, Our Website does not host any form of advertising Researchers from participating institutions use the database to search for and invite patients or healthy volunteers who meet their study criteria to participate. 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. Zesp Bainbridge'a-Ropers'a The petroleum ether extract of Brassica rapa L. induces apoptosis of lung adenocarcinoma cells via the mitochondria-dependent pathway. Phone: 202-588-5700. Mutations in this gene have been identified in human patients with Bainbridge-Ropers syndrome, which is characterized by feeding difficulties, developmental delay and other features. PURA syndrome - About the Disease - Genetic and Rare Diseases NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, It can resemble Bohring-Opitz syndrome but is not the same. Bainbridge-Ropers syndrome symptoms, treatments & forums - PatientsLikeMe We estimate that there are approximately 150-200 people diagnosed in the world. Most patients presented in early infancy with feeding difficulties, poor overall growth, relative microcephaly, and hypotonia. Washington, DC 20036 Mar 31, 2016. Cause: GARD does not currently have information about the cause of this condition. Collaborative study for the establishment of Human immunoglobulin for anticomplementary activity BRP replacement batches 3, 4, 5 and 6. Intellectual disability ranges from moderate to severe. Bainbridge-ropers syndrome caused by loss-of-function variants in ASXL3 Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Note: Electronic Article. To ensure long-term funding for the OMIM project, we have diversified Wikipedia: Less than 100 cases have been reported in literature and databases to date. Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Orphanet doesn't provide personalised answers. [Bainbridge-Ropers syndrome with ASXL3 gene variation in a child and literature review]. This free tool is designed to help billers and coders navigate the new ICD-10-CM code set. Currently GARD aims to provide the following information for this disease: Population Estimate: This section is currently in development. The fourth subject also had anteverted nares but had less severe psychomotor retardation and normal growth. 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. Authors Schaida Schirwani 1 2 , Emily Woods 2 , David A Koolen 3 . About PURA syndrome. Unlike ASXL1 and ASXL2 mutations, ASXL3 mutations are rare events in acute myeloid leukemia with t(8;21). #1. [Analysis of clinical feature and genetic variants in two Chinese pedigrees affected with Bainbridge-Ropers syndrome]. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature. Bainbridge-Ropers Syndrome (BRS) - zesp Bainbridge'a-Ropersa. [Full Text], Srivastava, A., Ritesh, K. C., Tsan, Y.-C., Liao, R., Su, F., Cao, X., Hannibal, M. C., Keegan, C. E., Chinnaiyan, A. M., Martin, D. M., Bielas, S. L. 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. 75 These cells showed significantly increased levels of H2AK119Ub1, indicating that this mutation disrupts the normal activity of the polycomb repressive deubiquitination (PR-DUB) complex, which functions to remove the monoubiquitin from lysine-119 of histone H2A (H2AK119Ub1), thus playing a role in chromatin remodeling and transcriptional regulation. GENECARDS SUITE PRODUCTS ARE FOR RESEARCH USE ONLY, DO NOT PROVIDE MEDICAL ADVICE AND ARE NOT FOR USE IN DIAGNOSTIC PROCEDURES. Disease Ontology: (2013) clustered mainly within the 5-prime end of exon 11 between codons 404 and 659. Genome Med. Pervasive exposure of wild small mammals to legacy and currently used pesticide mixtures in arable landscapes. ICD-10 Games Learn codes with classic games like Flashcards and Hangman. About ASXL3/Bainbridge-Ropers Syndrome (BRS) - ASXL Rare Research Bainbridge-Ropers syndrome - Wikipedia We hope you find it helpful, and thanks for stopping by! On this Wikipedia the language links are at the top of the page across from the article title. 25: 597-608, 2016. (It is often impossible to tell exactly when a de novo mutation happened.) [2], Diagnosis can only be made by genetic testing. Gene sequencing is required to confirm a diagnosis of Bainbridge-Ropers Syndrome. NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs) AND Severe feeding accessible. registered for member area and forum access. Reimbursement claims with a date of service on or after October 1, 2015 require the use of ICD-10-CM codes. (2017) noted that 5 of the identified mutations occurred within the original cluster region, whereas 7 occurred 3-prime to this region, suggesting a second cluster region between codons 1045 and 1444. Bainbridge Roper Syndrome is a rare genetic syndrome associated with a mutation in the ASXL3 gene. 11 Clinical features include dysmorphic facies, developmental delay, intellectual disability, autistic traits, hypotonia, failure to thrive, seizures and hyperventilation. H02382 Bainbridge-Ropers syndrome Human diseases in ICD-11 classification [BR:br08403] 20 Developmental anomalies Multiple developmental anomalies or syndromes . There are two main types of clinical studies: People participate in clinical trials for a variety of reasons. Learn More Our Mission. From Next Generation Sequence to the Phenotype: Exploring the ORPHA:352577 Classification level: Disorder Synonym (s): Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Prevalence: <1 / 1 000 000 Inheritance: Not applicable or Autosomal dominant Age of onset: Antenatal, Infancy, Neonatal ICD-10: Q87.0 OMIM: 615485 UMLS: - MeSH: - GARD: - MedDRA: - Summary Epidemiology 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. Suite 310 However, the symptoms can be treated. ICD-10-CM Diagnosis Code S14.147D ; Search Results. Changes in these genes are associated with Bohring-Opitz Syndrome, Shashi-Pena Syndrome, and Bainbridge-Ropers Syndrome. 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 . ICD-10 Codes: Lookup & Conversion Many collaborate with medical experts and researchers.Services of patient organizations differ, but may include: Clinical studies are part of clinical research and at the heart of all medical advances, including rare diseases. Box 4662Portland, ME 04112U.S.A.info@arrefoundation.org, We are recognized in the United States as a 501(c)3 nonprofit organization. Family finds answers, hope after discovery of rare genetic disorder Common emerging features include severe intellectual disability, speech impairment, autistic traits, distinct face, hypotonia, and significant feeding difficulties. (2013) reported 4 individuals from 4 unrelated families with phenotypic features similar to those of Bohring-Opitz syndrome (605039) but with no specific recognizable syndromic diagnosis. Rozpowszechnienie: nieznane. Quality of life and the functional consequences depends on the severity of the developmental delay and intellectual disability. Most of the patients described so far had been confirmed by next generation sequencing techniques. A syndrome characterized mainly by obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism, and renal failure in fatal cases. GARD does not currently have information about the cause of this condition. Compound heterozygous mutation of the ASXL3 gene causes autosomal recessive congenital heart disease. review the literature and organize it to facilitate your work. Disease Overview Summary Bohring-Opitz syndrome (BOS) is a rare, multiple anomaly syndrome that most often is evident at birth (congenital) and affects an individual's growth, development, and variable organ-systems. 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 ). De novo dominant ASXL3 mutations alter H2A deubiquitination and 04/10/2018 Edit History: joanna : 08/20/2021 joanna : 08/20/2021 joanna : 05/11/2018 ckniffin : 04/11/2018 . NORD is a registered 501(c)(3) charity organization. The mutation happens randomly and is not usually inherited from parents. UCLA ASXL-Related Disorders and Chromatinopathies Clinic 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.

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