Adult onset neurodegenerative disorder
Gene: CTSA

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

4 reviews

Ida Ertmanska (Genomics England Curator)

Comment on phenotypes: OMIM phenotype updated on 16th Feb 2026.
Created: 16 Feb 2026, 11 a.m. | Last Modified: 16 Feb 2026, 11 a.m.

Panel Version: 8.11

Created: 16 Feb 2026, 11 a.m.
Last Modified: 16 Feb 2026, 11 a.m.
Panel version: 8.11

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 12:22 p.m. | Last Modified: 1 Feb 2023, 12:22 p.m.

Panel Version: 3.49

Created: 1 Feb 2023, 12:22 p.m.
Last Modified: 1 Feb 2023, 12:22 p.m.
Panel version: 3.49

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on classification: This gene should be promoted to GREEN at the next GMS panel update as this gene has been implicated in >10 unrelated patients of multiple ancestry including Europeans and Chinese. The evidence from literature also confirms the adult-onset nature of this disorder.

This gene has not yet been associated with this disorder caused by autosomal dominant inheritance in OMIM. However, it has already been associated with galactosialidosis (autosomal recessive disorder) in both OMIM and G2P.
Created: 3 Jan 2023, 10:56 p.m. | Last Modified: 5 Jan 2023, 9:33 a.m.

Panel Version: 3.36

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
cathepsin a-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551

Publications

Created: 3 Jan 2023, 10:56 p.m.
Last Modified: 5 Jan 2023, 9:33 a.m.
Panel version: 3.5

Eleanor Williams (Genomics England Curator)

Review submitted on behalf of David Lynch, James Polke, Henry Houlden, Lucy Jenkins. Mode of inheritance: AD. Phenotype: Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL). Evidence: (1) PMID:27664989, (2) PMID: 28702507 (3) PMID: 35904593. The same variant associated with the phenotype but independently reported in several families of different ethincities
Created: 22 Dec 2022, 12:10 p.m. | Last Modified: 22 Dec 2022, 12:10 p.m.

Panel Version: 3.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cathepsin A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)

Publications

Created: 22 Dec 2022, 12:10 p.m.
Last Modified: 22 Dec 2022, 12:10 p.m.
Panel version: 3.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Green
NHS GMS
Expert list

Phenotypes

Brain small vessel disease 6 with leukoencephalopathy, OMIM:621394
cathepsin a-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551

OMIM

613111

Clinvar variants

Variants in CTSA

Penetrance

None

Publications

Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: CTSA were changed from Cathepsin A-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551 to Brain small vessel disease 6 with leukoencephalopathy, OMIM:621394; cathepsin a-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_23_promote_green was removed from gene: CTSA.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to CTSA. Source Expert Review Green was added to CTSA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

5 Jan 2023, Gel status: 2