Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Intellectual_disability

Gene: ARID1A

Red List (low evidence)

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

0 reviews

Details

Sources
  • Known gene (Grozeva et al, 2015)
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, autosomal dominant 14, 614607
  • Intellectual disability
OMIM
603024
Clinvar variants
Variants in ARID1A
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ARID1A was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ARID1A was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen