Skeletal dysplasia
Gene: SBDS
Metaphyseal dysplasia gp of SD, Severe spondylodysplastic dysplasias gp of SD - many cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Shwachman-Diamond syndrome 260400
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: SBDS; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reportedCreated: 27 Jul 2016, 10:03 a.m.
Tier 3Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Shwachman-Diamond syndrome 260400; {Aplastic anemia, susceptibility to} 609135
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Shwachman-Diamond syndrome 260400 for gene: SBDS
Source NHS GMS was added to SBDS. 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).
This gene has been classified as Green List (High Evidence).
SBDS was added to Unexplained skeletal dysplasiapanel. Sources: Expert Review
SBDS was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for SBDS were set to Shwachman-Diamond syndrome 260400
Mode of inheritance for SBDS was changed to BIALLELIC, autosomal or pseudoautosomal
SBDS was added to Unexplained skeletal dysplasiapanel. Sources:
SBDS was created by sleigh