Skeletal dysplasia
Gene: RBM8A
Limb hypoplasia-reduction defects gp of SD - >3 cases. 1q21.1del (or truncating variants occasionally) comp het with regulatory SNPs in 5'UTR or intron 1. SNP freq 3% and 0.5%.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thrombocytopenia-absent radius syndrome 274000
Mode of pathogenicity
Other - please provide details in the comments
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: RBM8A; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reportedCreated: 29 Jul 2016, 1:53 p.m.
Tier 2Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Thrombocytopenia-absent radius syndrome 274000
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Thrombocytopenia-absent radius syndrome 274000 for gene: RBM8A
Source NHS GMS was added to RBM8A. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for RBM8A were set to Thrombocytopenia-absent radius syndrome 274000
Mode of inheritance for RBM8A was changed to BIALLELIC, autosomal or pseudoautosomal
RBM8A was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
RBM8A was created by sleigh
RBM8A was added to Unexplained skeletal dysplasiapanel. Sources: