ASXL1

additional sex combs like 1, transcriptional regulator
OMIM: 612990, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green ASXL1 in Anophthalmia_Microphthalmia_Coloboma Level 2: Ophthalmological disorders Version 1.50	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bohring-Opitz syndrome , MIM#605039
Green ASXL1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.424 Component of the following Super Panels: Neuromuscular Superpanel	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ASXL1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.390	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Literature Phenotypes Bohring-Opitz syndrome (MIM 605039)
Green ASXL1 in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.71	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Bohring-Opitz syndrome,MIM# 605039
Green ASXL1 in Mendeliome Version 1.3098	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Bohring-Opitz syndrome , MIM#605039 Combined immunodeficiency, MONDO:0015131, ASXL1-related
Green ASXL1 in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.132	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Bohring-Opitz syndrome , MIM#605039 Wilms tumour
Green ASXL1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.558	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red ASXL1 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.126 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Combined immunodeficiency, MONDO:0015131, ASXL1-related
Green ASXL1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.294	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Bohring-Opitz syndrome , MIM#605039
Green ASXL1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.318	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services Expert Review Green Radboud University Medical Center, Nijmegen NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Bohring-Opitz syndrome 605039
Green ASXL1 in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.270	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes BOPS BOHRING-OPITZ SYNDROME
Green ASXL1 in Fetal anomalies Version 1.413	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Victorian Clinical Genetics Services Phenotypes Bohring-Opitz syndrome , MIM#605039
Red ASXL1 in Wilms Tumour Level 2: Cancer Predisposition Version 1.1	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert Review Expert list Phenotypes Wilms tumor, MONDO:0006058 Bohring-Opitz syndrome, MONDO:0011510 Bohring-Opitz syndrome, MIM#605039