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Intellectual disability syndromic and non-syndromic

Gene: CTSA

Green List (high evidence)

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

1 review

Ken Lee Wan (Monash Health)

Green List (high evidence)

Patients with galactosialidosis present with broad spectrum of clinical manifestation which includes vision problems, difficulty walking, dark red spots on the skin, spine abnormalities and intellectual disability that worsen with time (PMIDs: 23915561, 36713078).
Mechanism of disease causation: loss of function of CTSA results in secondary combined deficiency of GLB1 and NEU1 (PMID: 23915561).
Created: 2 Aug 2024, 5:56 a.m. | Last Modified: 2 Aug 2024, 5:56 a.m.
Panel Version: 0.6096

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactosialidosis MONDO:0009737

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

7 Aug 2024, 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).

7 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

7 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CTSA were set to

7 Aug 2024, Gel status: 3

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

22 Nov 2019, Gel status: 3

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 Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: CTSA was set to Unknown