Leukodystrophy - adult onset
Gene: CTSAEnsemblGeneIds (GRCh38): ENSG00000064601
EnsemblGeneIds (GRCh37): ENSG00000064601
OMIM: 613111, Gene2Phenotype
CTSA is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Please note bi-allelic CTSA mutations cause galactosialidosis.Created: 27 Apr 2020, 5:48 a.m. | Last Modified: 27 Apr 2020, 5:48 a.m.
Panel Version: 0.24
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cathepsin A-related arteriopathy with strokes and leukoencephalopathy
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Cathepsin-A-related arteriopathy with strokes and leukoencephalopathy
- OMIM
- 613111
- Clinvar variants
- Variants in CTSA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Macrocephaly_Megalencephaly
- Stroke
- Regression
- Mackenzie's Mission_Reproductive Carrier Screening
- Leukodystrophy - adult onset
- Skeletal dysplasia
- Fetal anomalies
- Prepair 1000+
- Mendeliome
- Lysosomal Storage Disorder
- Hydrops fetalis
- Prepair 500+
- Intellectual disability syndromic and non-syndromic
- Cerebral vascular malformations
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ctsa has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: CTSA was added gene: CTSA was added to Leukodystrophy - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: CTSA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CTSA were set to 31177426 Phenotypes for gene: CTSA were set to Cathepsin-A-related arteriopathy with strokes and leukoencephalopathy