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  3. ARID1A
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Hand and foot malformations

Gene: ARID1A

Green List (high evidence)
ARID1A (AT-rich interaction domain 1A)
EnsemblGeneIds (GRCh38): ENSG00000117713
EnsemblGeneIds (GRCh37): ENSG00000117713
OMIM: 603024, Gene2Phenotype
ARID1A is in 13 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 5 cases have been reported with skeletal anomalies (brachydactyly and polydactyly) as a feature of the condition. Mosaicism is very common for the gene.
Created: 21 Sep 2021, 5:52 a.m. | Last Modified: 21 Sep 2021, 5:53 a.m.
Panel Version: 0.115

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 2 MM#614607

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 21 Sep 2021, 5:52 a.m.
Last Modified: 21 Sep 2021, 5:53 a.m.
Panel version: Imported from Skeletal dysplasia panel version 0.115

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well reported in CSS patients
Created: 7 Sep 2020, 12:40 a.m. | Last Modified: 7 Sep 2020, 12:40 a.m.
Panel Version: 0.4242

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Coffin-Siris syndrome 2 (MIM#614607)

Publications

Created: 7 Sep 2020, 12:40 a.m.
Last Modified: 7 Sep 2020, 12:40 a.m.
Panel version: Imported from Mendeliome panel version 0.4242

History Filter Activity

22 Sep 2021, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARID1A was added gene: ARID1A was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ARID1A were set to Coffin-Siris