This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: CTSC
CTSC (cathepsin C)
EnsemblGeneIds (GRCh38): ENSG00000109861
EnsemblGeneIds (GRCh37): ENSG00000109861
OMIM: 602365, Gene2Phenotype
CTSC is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000109861
EnsemblGeneIds (GRCh37): ENSG00000109861
OMIM: 602365, Gene2Phenotype
CTSC is in 9 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
245010 not listed in SD nosology paper, but is associated with skeletal signs including arachnodactyly & acroosteolysis - at least families reported. Variants in this gene also associated with Papillon-Lefevre syndrome 245000, periodontitis 1, juvenile 170650.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Haim-Munk syndrome 245010,
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Haim-Munk syndrome 245010,
- OMIM
- 602365
- Clinvar variants
- Variants in CTSC
- Penetrance
- None
- Panels with this gene
-
- Palmoplantar keratodermas
- Likely inborn error of metabolism
- COVID-19 research
- Undiagnosed metabolic disorders
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
- Palmoplantar keratoderma and erythrokeratodermas
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: CTSC was added gene: CTSC was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSC were set to Haim-Munk syndrome 245010,