Cerebral vascular malformations
Gene: CTSA
Cerebral vascular malformations is not a feature of this condition.Created: 25 Nov 2024, 5:17 a.m. | Last Modified: 25 Nov 2024, 5:17 a.m.
Panel Version: 0.39
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
galactosialidosis MONDO:0009737
Bi-allelic variants associated with galactosialidosis, and mono-allelic variants associated with CARASAL.Created: 27 Apr 2020, 5:53 a.m. | Last Modified: 27 Apr 2020, 5:54 a.m.
Panel Version: 0.2635
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Galactosialidosis, MIM# 256540; Cathepsin A-related arteriopathy with strokes and leukoencephalopathy
Publications
Gene: ctsa has been classified as Red List (Low Evidence).
Phenotypes for gene: CTSA were changed from to galactosialidosis MONDO:0009737
Mode of inheritance for gene: CTSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: CTSA was added gene: CTSA was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: CTSA was set to Unknown