Skeletal dysplasia
Gene: SMC3
Limb hypoplasia-reduction defects 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
Cornelia de Lange syndrome 3 610759
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: SMC3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:37 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 1 Aug 2016, 7:02 a.m.
Tier 3Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cornelia de Lange syndrome 3 610759
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Cornelia de Lange syndrome 3 610759 for gene: SMC3
Source NHS GMS was added to SMC3. 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 SMC3 were set to Cornelia de Lange syndrome 3 610759
Mode of inheritance for SMC3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
SMC3 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
SMC3 was created by sleigh
SMC3 was added to Unexplained skeletal dysplasiapanel. Sources: