Skeletal dysplasia

Gene: ARHGAP31

Green List (high evidence)

terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly) - at least 3 cases. Listed in Brachydactylies (with extraskeletal manifestations) gp of SD. AD. Four cases listed by Meester et al 2018.; Review on behalf of Tracy Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Adams-Oliver syndrome 1 100300

Publications

• 21565291
• 29924900

I don't know

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: ARHGAP31; Initial rating suggestion: green

Created: 6 Mar 2019, 11:36 a.m.

Another case of a variant in ARHGAP31 associated with Adams–Oliver syndrome is reported in Meester et al (2018) (PMID: 29924900)

Created: 9 Sep 2018, 8:39 p.m.

Comment when marking as ready: Associated with phenotype in G2P. Only two variants reported in this phenotype.

Created: 11 Jul 2016, 10:37 a.m.

Green List (high evidence)

Tier 2

Created: 17 Jun 2016, 8:01 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Adams-Oliver syndrome 1 100300

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