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  2. Lysosomal Storage Disorder
  3. CTSD
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Lysosomal Storage Disorder

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)

Neurodegenerative disorder though severe congenital forms also reported.
Created: 8 Apr 2021, 7:35 a.m. | Last Modified: 8 Apr 2021, 7:35 a.m.
Panel Version: 0.89

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; MONDO:0012414

Publications

Created: 8 Apr 2021, 7:35 a.m.
Last Modified: 8 Apr 2021, 7:35 a.m.
Panel version: 0.89

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10, MIM# 610127
  • MONDO:0012414
OMIM
116840
Clinvar variants
Variants in CTSD
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Apr 2021, 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).

8 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, MIM# 610127; MONDO:0012414

8 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CTSD were set to

8 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CTSD 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: CTSD was added gene: CTSD was added to Storage Disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CTSD was set to Unknown