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DDG2P

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: confirmed.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • COFFIN-SIRIS SYNDROME 135900
OMIM
603024
Clinvar variants
Variants in ARID1A
Penetrance
None
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: confirm

19 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ARID1A was added gene: ARID1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARID1A were set to COFFIN-SIRIS SYNDROME 135900