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Fetal anomalies

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)

Variable age of onset, including severe early infantile presentations, hydrops sometimes reported.
Created: 25 Nov 2021, 10:10 p.m. | Last Modified: 25 Nov 2021, 10:10 p.m.
Panel Version: 0.728

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactosialidosis, MIM# 256540

Publications

History Filter Activity

25 Nov 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).

25 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTSA was added gene: CTSA was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSA were set to 7759227 Phenotypes for gene: CTSA were set to GALACTOSIALIDOSIS