Cerebral vascular malformations

Gene: CTSA

Red List (low evidence)

CTSA (cathepsin A)
EnsemblGeneIds (GRCh38): ENSG00000064601
EnsemblGeneIds (GRCh37): ENSG00000064601
OMIM: 613111, Gene2Phenotype
CTSA is in 12 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

New gene rated Red - deemed relevant to the GMS panel R336 Cerebral vascular malformations
Created: 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 list
Created: 29 Nov 2019, 3:28 p.m.

Mode of inheritance
Unknown

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