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Cerebral vascular malformations

Gene: CTSA

Red List (low evidence)
CTSA (cathepsin A)
EnsemblGeneIds (GRCh38): ENSG00000064601
EnsemblGeneIds (GRCh37): ENSG00000064601
OMIM: 613111, Gene2Phenotype
CTSA is in 14 panels

1 review

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

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

Created: 25 Nov 2024, 5:17 a.m.
Last Modified: 25 Nov 2024, 5:17 a.m.
Panel version: 0.39

History Filter Activity

26 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctsa has been classified as Red List (Low Evidence).

26 Nov 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CTSA were changed from to galactosialidosis MONDO:0009737

26 Nov 2024, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CTSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

18 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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