Genes in panel

Likely inborn error of metabolism - targeted testing not possible

Gene: CTSA

Green List (high evidence)

CTSA (cathepsin A)
EnsemblGeneIds (GRCh38): ENSG00000064601
EnsemblGeneIds (GRCh37): ENSG00000064601
OMIM: 613111, Gene2Phenotype
CTSA is in 13 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 15 variants reported.
Created: 17 Jan 2017, 2:48 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:56 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Unexplained skeletal dysplasia

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CTSA. Source London North GLH was added to CTSA.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CTSA was added gene: CTSA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CTSA were set to 27604308 Phenotypes for gene: CTSA were set to Galactosialidosis