Skeletal dysplasia
Gene: RAB23
Craniosynostosis syndrome gp of SD - several cases. Do you report variants in this gene as part of your current diagnostic practice? YES - for CSS; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carpenter syndrome 201000
Variants in this GENE are reported as part of current diagnostic practice
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: RAB23; 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 three variants reportedCreated: 29 Jul 2016, 1:36 p.m.
Tier 2Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Carpenter syndrome 201000
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Carpenter syndrome 201000 for gene: RAB23
Source NHS GMS was added to RAB23. 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 RAB23 were set to Carpenter syndrome 201000
Mode of inheritance for RAB23 was changed to BIALLELIC, autosomal or pseudoautosomal
RAB23 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
RAB23 was added to Unexplained skeletal dysplasiapanel. Sources:
RAB23 was created by sleigh