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  2. Syndromic Retinopathy
  3. CTSD
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Syndromic Retinopathy

Gene: CTSD

Green List (high evidence)
CTSD (cathepsin D)
EnsemblGeneIds (GRCh38): ENSG00000117984
EnsemblGeneIds (GRCh37): ENSG00000117984
OMIM: 116840, Gene2Phenotype
CTSD is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Retinal degeneration is part of the phenotype.
Sources: Expert Review
Created: 9 Oct 2020, 10:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 10, OMIM #610127

Created: 9 Oct 2020, 10:24 a.m.

Panel version: 0.83

History Filter Activity

9 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctsd has been classified as Green List (High Evidence).

9 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ctsd has been classified as Green List (High Evidence).

9 Oct 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CTSD was added gene: CTSD was added to Syndromic Retinopathy. Sources: Expert Review Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10, OMIM #610127 Review for gene: CTSD was set to GREEN