Leukodystrophy, adult onset
Gene: CTSAEnsemblGeneIds (GRCh38): ENSG00000064601
EnsemblGeneIds (GRCh37): ENSG00000064601
OMIM: 613111, Gene2Phenotype
CTSA is in 12 panels
5 reviews
Lauren Turton (Sheffield Diagnostics Genetics Service)
CARASAL is the monoallelic phenotype. This gene is already green in the adult onset neurodegenerative disorders panel for monoallelic. The phenotype is also relevant for adult onset leukodystrophy patients.
Has OMIM phenotype for monoallelic OMIM: 621394Created: 19 Aug 2026, 8:25 a.m. | Last Modified: 19 Aug 2026, 8:25 a.m.
Panel Version: 7.9
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
David Lynch (UCL Institute of Neurology)
Catherine Snow (Genomics England)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosialidosis, 256540
Louise Daugherty (Genomics England Curator)
Review and rating uploaded from file (Consensus gene list for R62 Adult-Onset Leukodystrophy - Leeds.xlsx) submitted by Ian Berry (Leeds Genetics Laboratory) on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Phenotype and MOI not submitted.Created: 4 Jul 2019, 4:32 p.m. | Last Modified: 4 Jul 2019, 4:32 p.m.
Panel Version: 0.10
Ian Berry (Leeds Genetics Laboratory)
Included all genes listed in clinical cases in Lynch et al 2015 PMID:28334938 and Ayrignac et al. 2015 PMID: 25527826. Included all genes with clear adult onset listed in Vanderver 2017 PMID:27159321 and Ahmed et al. 2017 PMID:24357685. A small number of genes from these resources were omitted, particularly those with limited or single case reports referenced in Ahmed et al, those with a metabolic basis (that could be determined by standard metabolic assays), and recessive diseases where the likelihood of encountering incidental carrier status is far more likely than finding a diagnosis e.g. Cockayne syndrome. Due to variable expressivity and potential later onset of phenotype in hypomorphic cases, peroxisomal biogenesis disorders OMIM phenotypic Series PS214100 and GeneReviews PMID:20301621 included.Created: 4 Jul 2019, 4:06 p.m. | Last Modified: 4 Jul 2019, 4:06 p.m.
Panel Version: 0.9
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Yorkshire and North East GLH
- Phenotypes
-
- Galactosialidosis, 256540
- OMIM
- 613111
- Clinvar variants
- Variants in CTSA
- Penetrance
- None
- Publications
- Panels with this gene
-
- Lysosomal storage disorder
- Neurodegenerative disorders, adult onset
- Intellectual disability
- Likely inborn error of metabolism
- Dystonia, chorea or related movement disorder, childhood onset
- Skeletal dysplasia
- Cerebral vascular malformations
- Undiagnosed metabolic disorders
- Fetal hydrops
- DDG2P
- Fetal anomalies
- Leukodystrophy, adult onset
History Filter Activity
Set mode of inheritance, Set Phenotypes
Catherine Snow (Genomics England)Mode of inheritance for gene CTSA was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Galactosialidosis, 256540 for gene: CTSA
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene CTSA were changed from to 27159321; 25527826; 28334938; 20301621; 24357685
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to CTSA. Rating Changed from Red List (low evidence) to Green List (high evidence)
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CTSA.
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: CTSA was added gene: CTSA was added to White matter disorders - adult onset. Sources: Yorkshire and North East GLH Mode of inheritance for gene: CTSA was set to