This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: CTSA
CTSA (cathepsin A)
EnsemblGeneIds (GRCh38): ENSG00000064601
EnsemblGeneIds (GRCh37): ENSG00000064601
OMIM: 613111, Gene2Phenotype
CTSA is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000064601
EnsemblGeneIds (GRCh37): ENSG00000064601
OMIM: 613111, Gene2Phenotype
CTSA is in 12 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
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, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosialidosis 256540
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Galactosialidosis 256540
- OMIM
- 613111
- Clinvar variants
- Variants in CTSA
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Intellectual disability
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Fetal hydrops
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Childhood onset dystonia, chorea or related movement disorder
- Lysosomal storage disorder
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: CTSA was added gene: CTSA was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSA were set to Galactosialidosis 256540