Genomics England
GMS Panels
Panels
Genes and Entities

ARID1B

AT-rich interaction domain 1B
OMIM: 614556
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 135900, COFFIN SIRIS SYNDROME 135900
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12, COFFIN SIRIS SYNDROME
Green
in Genetic epilepsy syndromes
R-numbers: R59
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Coffin-Siris syndrome 1, 135900
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, autosomal dominant 12, 614562, COFFIN SIRIS SYNDROME