Skeletal dysplasiaGene: ARID1B
Listed in Brachydactylies (with extraskeletal manifestations) gp of SD. AD. Many variants reported.; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Coffin-Siris syndrome type 1 - 135900
Comment on list classification: Keeping red for now. Associated with Coffin-Siris syndrome 1 in OMIM. Clinical features list short stature in some patients, but mainly a limb phenotype including hypoplastic digits and nails. Not classical for a skeletal panel.
Created: 11 Dec 2019, 5:17 p.m. | Last Modified: 11 Dec 2019, 5:17 p.m.
Panel Version: 1.284
Associated with Coffin-Siris syndrome 1 #135900 (AD) in OMIM. Clinical features list short stature in some patients, but mainly a limb phenotype including hypoplastic digits and nails.
OMIM lists many cases of variants in ARID1B reported in patients with Coffin-Siris syndrome.
Created: 20 Nov 2019, 1:05 p.m. | Last Modified: 20 Nov 2019, 1:05 p.m.
Panel Version: 1.219
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: ARID1B; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.
Gene: arid1b has been classified as Red List (Low Evidence).
Added phenotypes Coffin-Siris syndrome type 1 - 135900 for gene: ARID1B
Source NHS GMS was added to ARID1B.
Promoted to version 1 9th August 2016
ARID1B was created by sleigh
ARID1B was added to Unexplained skeletal dysplasiapanel. Sources: