ASXL3:Ensemblv90

additional sex combs like 3, transcriptional regulator
OMIM: 615115, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green ASXL3 in Angelman Rett like syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 1.14	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bainbridge-Ropers syndrome (OMIM # 615485)
Green ASXL3 in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.233	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bainbridge-Ropers syndrome (OMIM # 615485)
Green ASXL3 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.405	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Bainbridge-Ropers syndrome, MIM# 615485
Red ASXL3 in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.511	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital heart disease, MONDO:0005453, ASXL3-related
Green ASXL3 in Mendeliome Version 1.3802	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bainbridge-Ropers syndrome (OMIM # 615485)
Green ASXL3 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.309 Component of the following Super Panels: Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature ClinGen NHS GMS Phenotypes Bainbridge-Ropers syndrome, OMIM:615115
Green ASXL3 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.578	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bainbridge-Ropers syndrome (OMIM # 615485)
Green ASXL3 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.508	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Bainbridge-Ropers syndrome (OMIM # 615485)
Amber ASXL3 in Fetal anomalies Version 1.482	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Genomics England PanelApp Phenotypes Bainbridge-Ropers syndrome (OMIM # 615485)
Green ASXL3 in Angelman Rett like syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Bainbridge-Ropers syndrome (OMIM # 615485)
Green ASXL3 in Autism Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Bainbridge-Ropers syndrome (OMIM # 615485)
Green ASXL3 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Bainbridge-Ropers syndrome, MIM# 615485
Green ASXL3 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS ClinGen Literature Expert Review Green Phenotypes Bainbridge-Ropers syndrome, OMIM:615115
Green ASXL3 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Bainbridge-Ropers syndrome (OMIM # 615485)