Skeletal dysplasia
Gene: ARHGAP31
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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Adams-Oliver syndrome 1 100300
Publications
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: greenCreated: 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.
Tier 2Created: 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
Added phenotypes Adams-Oliver syndrome 1 100300 for gene: ARHGAP31 Publications for gene ARHGAP31 were changed from 21565291; 29924900 to 29924900; 21565291
Source NHS GMS was added to ARHGAP31. Rating Changed from Green List (high evidence) to Green List (high evidence)
Publications for gene: ARHGAP31 were set to 21565291
Promoted to version 1 9th August 2016
Mode of inheritance for ARHGAP31 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Publications for ARHGAP31 were set to 21565291
Phenotypes for ARHGAP31 were set to Adams-Oliver syndrome 1 100300
ARHGAP31 was added to Unexplained skeletal dysplasiapanel. Sources: UKGTN,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Expert list
ARHGAP31 was added to Unexplained skeletal dysplasiapanel. Sources:
ARHGAP31 was created by sleigh