Coarse facial features including Coffin-Siris-like disorders
Gene: ARID1BEnsemblGeneIds (GRCh38): ENSG00000049618
EnsemblGeneIds (GRCh37): ENSG00000049618
OMIM: 614556, Gene2Phenotype
ARID1B is in 8 panels
2 reviews
Alice Gardham (Genomics England)
Comment on list classification: Commonest cause of Coffin Siris. On G2P and GOSH Coffin Siris panelCreated: 23 Nov 2016, 9:26 a.m.
alisdair mcneill (Sheffield childrens hospital)
original coffin-siris gene; one of the most common genes for intellectual disability in DDDCreated: 29 Jun 2016, 6:58 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
intellectual disability; coffin-siris syndrome
Publications
- http://www.ncbi.nlm.nih.gov/pubmed/25169878
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- intellectual disability
- coffin-siris syndrome
- Coffin-Siris syndrome 1
- OMIM
- 614556
- Clinvar variants
- Variants in ARID1B
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)ARID1B was added to Coarse facial features including Coffin-Siris-like disorderspanel. Source: Radboud University Medical Center, Nijmegen
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
alisdair mcneill (Sheffield childrens hospital)ARID1B was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Expert list
Created
alisdair mcneill (Sheffield childrens hospital)ARID1B was created by [email protected]