ARID1B

AT-rich interaction domain 1B
OMIM: 614556, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green ARID1B in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.205	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Red ARID1B in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.389	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Coffin-Siris syndrome 1, MIM#135900
Green ARID1B in Congenital Heart Defect Level 2: Cardiovascular disorders Version 0.430	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 1, MIM# 135900
Green ARID1B in Craniosynostosis Level 2: Dysmorphic and congenital abnormality syndromes Version 1.68	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Coffin-Siris syndrome 1, MIM# 135900
Green ARID1B in Hydrocephalus_Ventriculomegaly Level 2: Neurology and neurodevelopmental disorders Version 0.127	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Coffin-Siris syndrome 1 MONDO:0007617
Green ARID1B in Hypertrichosis syndromes Level 2: Dysmorphic and congenital abnormality syndromes Version 0.46	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ARID1B in Mendeliome Version 1.2374	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 1 MIM#135900
Green ARID1B in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.119 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Coffin-Siris syndrome 1 MIM#135900
Green ARID1B in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.540	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green ARID1B in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.83	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Coffin-Siris syndrome 1, MIM 135900
Green ARID1B in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.305	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green NHS GMS Phenotypes Coffin-Siris syndrome type 1 - 135900 Coffin-Siris
Green ARID1B in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Coffin-Siris syndrome
Amber ARID1B in Clefting disorders Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 0.260	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Coffin-Siris syndrome 1, OMIM:135900
Green ARID1B in Hand and foot malformations Level 2: Dysmorphic and congenital abnormality syndromes Version 0.76 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Phenotypes Coffin-Siris syndrome type 1 - 135900
Green ARID1B in Fetal anomalies Version 1.314	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Phenotypes Coffin-Siris syndrome 1, MIM 135900
Red ARID1B in BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene Phenotypes Coffin-Siris syndrome 1 MIM#135900