ARID1B

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

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Red ARID1B in Familial Hirschsprung Disease Level 3: Gastrointestinal disorders Level 2: Gastroenterological disorders Version 1.10	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Hirschsprung disease
Green ARID1B in Autism Version 0.36	review	Not set	Sources Expert Review Green SFARI Phenotypes Coffin-Siris syndrome ASD, DD/NDD, EPS, ADHD, ID, EP
Red ARID1B in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.57 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert Review Red NHS GMS Phenotypes Coffin-Siris syndrome type 1 - 135900 Coffin-Siris
Green ARID1B in Fetal anomalies Version 3.157 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 COFFIN SIRIS SYNDROME
Green ARID1B in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 4.180 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Research Literature Phenotypes Coffin-Siris syndrome 1, OMIM:135900
Green ARID1B in DDG2P Version 3.87 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900 COFFIN SIRIS SYNDROME 135900
Amber ARID1B in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.109 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Coffin-Siris syndrome 1, OMIM:135900
Green ARID1B in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.195 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Wessex and West Midlands GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Coffin-Siris syndrome 1, 135900
Green ARID1B in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.536 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, autosomal dominant 12, 614562 COFFIN SIRIS SYNDROME
Green ARID1B in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Coffin-Siris syndrome 1, 135900