Cerebral vascular malformations
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
Louise Daugherty (Genomics England Curator)
New gene rated Red - deemed relevant to the GMS panel R336 Cerebral vascular malformationsCreated: 29 Nov 2019, 3:40 p.m. | Last Modified: 29 Nov 2019, 3:40 p.m.
Panel Version: 1.58
Combined reviews: Ian Berry (YNELGH) & GEL clinical team (Richard Scott & Helen Brittain) - red in view of lack of a relevant phenotype for this panel
Sources: Expert listCreated: 29 Nov 2019, 3:28 p.m.
Mode of inheritance
Unknown
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Yorkshire and North East GLH
- NHS GMS
- Expert list
- OMIM
- 613111
- Clinvar variants
- Variants in CTSA
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Skeletal dysplasia
- Adult onset neurodegenerative disorder
- Fetal hydrops
- Fetal anomalies
- Cerebral vascular malformations
- Adult onset leukodystrophy
- Lysosomal storage disorder
- Likely inborn error of metabolism
History Filter Activity
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Yorkshire and North East GLH was added to CTSA.
29 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CTSA.
29 Nov 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: CTSA was added gene: CTSA was added to Cerebral vascular malformations. Sources: Expert list Mode of inheritance for gene: CTSA was set to Unknown Review for gene: CTSA was set to RED