Hand and foot malformations
Gene: ARID1B

ARID1B (AT-rich interaction domain 1B)
EnsemblGeneIds (GRCh38): ENSG00000049618
EnsemblGeneIds (GRCh37): ENSG00000049618
OMIM: 614556, Gene2Phenotype
ARID1B is in 16 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Skeletal limb anomalies, spinal anomalies, and short stature have been reported as a feature of the condition. >3 cases reported, at least one case identified in a skeletal dysplasia cohort.
Created: 21 Sep 2021, 6:18 a.m. | Last Modified: 21 Sep 2021, 6:19 a.m.

Panel Version: 0.119

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Coffin-Siris syndrome 1 MIM#135900

Publications

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

Created: 21 Sep 2021, 6:18 a.m.
Last Modified: 21 Sep 2021, 6:19 a.m.
Panel version: Imported from Skeletal dysplasia panel version 0.118

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert list
Expert Review Green
Expert Review Green

Phenotypes

Coffin-Siris syndrome type 1 - 135900

OMIM

614556

Clinvar variants

Variants in ARID1B

Penetrance

None

Panels with this gene

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: ARID1B was added gene: ARID1B was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: ARID1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ARID1B were set to Coffin-Siris syndrome type 1 - 135900

Hand and foot malformations Gene: ARID1B