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

Intellectual_disability

Gene: ARID1B

Red List (low evidence)

ARID1B (AT-rich interaction domain 1B)
EnsemblGeneIds (GRCh38): ENSG00000049618
EnsemblGeneIds (GRCh37): ENSG00000049618
OMIM: 614556, Gene2Phenotype
ARID1B is in 8 panels

0 reviews

Details

Sources
  • Known gene (Grozeva et al, 2015)
  • Known gene (Grozeva et al, 2015)
Phenotypes
  • Mental retardation, autosomal dominant 12, 614562
  • Intellectual disability
OMIM
614556
Clinvar variants
Variants in ARID1B
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ARID1B 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)

ARID1B was added to Intellectual_disabilitypanel. Sources: Radboud University Medical Center, Nijmegen