Hydrops fetalis

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Galactosialidosis is a lysosomal storage disease associated with a combined deficiency of beta-galactosidase and neuraminidase, secondary to a defect in protective protein/cathepsin A (PPCA). All patients have clinical manifestations typical of a lysosomal disorder, such as coarse facies, cherry red spots, vertebral changes, foam cells in the bone marrow, and vacuolated lymphocytes. Three phenotypic subtypes are recognized. The early infantile form is associated with fetal hydrops, edema, ascites, visceromegaly, skeletal dysplasia, and early death.
Created: 6 Mar 2021, 9:10 a.m. | Last Modified: 6 Mar 2021, 9:10 a.m.
Panel Version: 0.198

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactosialidosis, MIM# 256540

Publications

History Filter Activity

6 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).

6 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CTSA were changed from to Galactosialidosis, MIM# 256540

6 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CTSA were set to

6 Mar 2021, 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

17 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 Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CTSA was set to Unknown