Coarse facial features including Coffin-Siris-like disorders

Gene: ARID1B

Green List (high evidence)

ARID1B (AT-rich interaction domain 1B)
EnsemblGeneIds (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 panel
Created: 23 Nov 2016, 9:26 a.m.

alisdair mcneill (Sheffield childrens hospital)

Green List (high evidence)

original coffin-siris gene; one of the most common genes for intellectual disability in DDD
Created: 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

23 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

23 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

18 Nov 2016, Gel status: 1

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

14 Nov 2016, Gel status: 0

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

29 Jun 2016, Gel status: 0

Added New Source

alisdair mcneill (Sheffield childrens hospital)

ARID1B was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Expert list

29 Jun 2016, Gel status: 0

Created

alisdair mcneill (Sheffield childrens hospital)

ARID1B was created by [email protected]