Skeletal dysplasia
Gene: CTSA
Gene previously called PPGB - listed in lysosomal storage disorders with skeletal involvement (dysostosis multiplex gp) of SD. Several cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosialidosis 256540
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: CTSA; Initial rating suggestion: GreenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in OMIM and G2P. Numerous variants reportedCreated: 28 Jul 2016, 8:49 a.m.
Tier 3Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosialidosis 256540
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Galactosialidosis 256540 for gene: CTSA
Source NHS GMS was added to CTSA. 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).
Mode of inheritance for CTSA was changed to BIALLELIC, autosomal or pseudoautosomal
CTSA was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Phenotypes for CTSA were set to Galactosialidosis 256540
CTSA was added to Unexplained skeletal dysplasiapanel. Sources:
CTSA was created by sleigh