Skeletal dysplasia
Gene: SMC1A
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
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Cornelia de Lange syndrome 2 300590
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: SMC1A; 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, 6:59 a.m.
Tier 3Created: 17 Jun 2016, 8:08 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Cornelia de Lange syndrome 2 300590
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: SMC1A were changed from Cornelia de Lange syndrome 2 300590 to Cornelia de Lange syndrome 2, OMIM:300590; Cornelia de Lange syndrome 2, MONDO:0010370
Added phenotypes Cornelia de Lange syndrome 2 300590 for gene: SMC1A
Source NHS GMS was added to SMC1A. 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 SMC1A were set to Cornelia de Lange syndrome 2 300590
Mode of inheritance for SMC1A was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
SMC1A was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
SMC1A was added to Unexplained skeletal dysplasiapanel. Sources:
SMC1A was created by sleigh