Stroke

Gene: CTSA

Green List (high evidence)

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

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Borderline Green/Amber. 19 individuals reported, but single founder variant, c.973C>T; p.R325C.

Bi-allelic variants in this gene are associated with galactosialidosis.
Created: 10 Mar 2021, 2:05 a.m. | Last Modified: 10 Mar 2021, 2:12 a.m.
Panel Version: 0.70

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Natasha Brown (Victorian Clinical Genetics Services)

Green List (high evidence)

c.973C>T; p.R325C reported in three families, total of 14 individuals;
PMID: 27664989 WES applied in two of these families, confirmed variant segregation with affected status and
features of: leukoencephalopathy, ischemic and hemorrhagic strokes, cognitive deterioration, and therapy-resistant hypertension. Haplotype analysis confirmed shared ancestry b/w 2 families. Dutch ancestry.
Autopsy showed striking endothelin-1 immunoreactivity in white matter astrocytes, consistent with known role of cathepsin A function, to degrade endothelin-1. Cathepsin-A-related arteriopathy with strokes and leukoencephalopathy (CARASAL)
PMID: 31177426; further 1 case with same variant - British. CARASAL is a primary microangiopathy with severe atherosclerosis of arterioles and secondary leukoencephalopathy
Created: 10 Mar 2021, 12:49 a.m. | Last Modified: 10 Mar 2021, 12:49 a.m.
Panel Version: 0.70

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cerebral microangiopathy

Publications

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Three families reported with the same variant (c.973C > T), and a study mapping the condition to 20q13, where CTSA is located, but no sequencing conducted.
Sources: Literature
Created: 11 May 2020, 3:31 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cathepsin A-related Arteriopathy With Strokes and Leukoencephalopathy (CARASAL)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cathepsin A-related Arteriopathy With Strokes and Leukoencephalopathy (CARASAL)
Tags
founder
OMIM
613111
Clinvar variants
Variants in CTSA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctsa has been classified as Green List (High Evidence).

10 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CTSA were set to 27664989; 31177426; 23175731

10 Mar 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: CTSA.

10 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctsa has been classified as Green List (High Evidence).

11 May 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ctsa has been classified as Amber List (Moderate Evidence).

11 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CTSA was added gene: CTSA was added to Stroke. Sources: Literature Mode of inheritance for gene: CTSA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTSA were set to 27664989; 31177426; 23175731 Phenotypes for gene: CTSA were set to Cathepsin A-related Arteriopathy With Strokes and Leukoencephalopathy (CARASAL) Review for gene: CTSA was set to AMBER