Adult onset neurodegenerative disorder
Gene: CTSA
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
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
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 ethincitiesCreated: 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
Tag Q1_23_promote_green was removed from gene: CTSA.
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)
Tag Q1_23_promote_green tag was added to gene: CTSA.
Phenotypes for gene: CTSA were changed from Cathepsin a-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551 to Cathepsin A-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551
Phenotypes for gene: CTSA were changed from to Cathepsin a-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551
Publications for gene: CTSA were set to
Mode of inheritance for gene: CTSA was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Gene: ctsa has been classified as Amber List (Moderate Evidence).
gene: CTSA was added gene: CTSA was added to Neurodegenerative disorders - adult onset. Sources: Expert list Mode of inheritance for gene: CTSA was set to