This Panel is marked as Internal
Coarse facial features including Coffin-Siris-like disorders
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
alisdair mcneill (Sheffield childrens hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Publications
- http://www.ncbi.nlm.nih.gov/pubmed/23915561
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Phenotypes
-
- Galactosialidosis
- OMIM
- 613111
- Clinvar variants
- Variants in CTSA
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Adult onset neurodegenerative disorder
- Likely inborn error of metabolism
- DDG2P
- Undiagnosed metabolic disorders
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Skeletal dysplasia
- Lysosomal storage disorder
- Fetal hydrops
History Filter Activity
14 Nov 2016, Gel status: 0
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
30 Jan 2016, Gel status: 0
Added New Source
Alice Gardham (North West Thames Genetics)CTSA was added to Coarse facial features including Coffin-Siris-like disorderspanel. Sources: UKGTN
30 Jan 2016, Gel status: 0
Created
Alice Gardham (North West Thames Genetics)CTSA was created by alicegardham