Skeletal dysplasia

Gene: ARID1B

Green List (high evidence)

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

Phenotypes
Coffin-Siris syndrome type 1 - 135900

I don't know

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.