Skeletal dysplasia
Gene: SH3BP2
disorganized development of skeletal components gp of SD - several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cherubism 118400
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: SH3BP2; Initial rating suggestion: GreenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM. Numerous variants reportedCreated: 29 Jul 2016, 2:40 p.m.
Tier 3Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cherubism 118400
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SH3BP2 were changed from Cherubism 118400 to Cherubism, OMIM:118400
Added phenotypes Cherubism 118400 for gene: SH3BP2
Source NHS GMS was added to SH3BP2. 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 SH3BP2 were set to Cherubism 118400
Mode of inheritance for SH3BP2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
SH3BP2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
SH3BP2 was created by sleigh
SH3BP2 was added to Unexplained skeletal dysplasiapanel. Sources: