Coarse facial features including Coffin-Siris-like disorders

Gene: ARID1A

Green List (high evidence)

ARID1A (AT-rich interaction domain 1A)
EnsemblGeneIds (GRCh38): ENSG00000117713
EnsemblGeneIds (GRCh37): ENSG00000117713
OMIM: 603024, Gene2Phenotype
ARID1A is in 5 panels

2 reviews

Alice Gardham (Genomics England)

Comment on list classification: Causes around 5% of Coffin Siris
Created: 23 Nov 2016, 9:30 a.m.

alisdair mcneill (Sheffield childrens hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
intellectual disability; coffin-siris syndrome

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coffin-Siris syndrome 2
OMIM
603024
Clinvar variants
Variants in ARID1A
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)

ARID1A 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

Created

alisdair mcneill (Sheffield childrens hospital)

ARID1A was created by [email protected]

29 Jun 2016, Gel status: 0

Added New Source

alisdair mcneill (Sheffield childrens hospital)

ARID1A was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: Expert list