1. Panels
  2. Lysosomal storage disorder
  3. CTSD
STRs in panel
Prev Next
Regions in panel
Prev Next

Lysosomal storage disorder

Gene: CTSD

Green List (high evidence)
CTSD (cathepsin D)
EnsemblGeneIds (GRCh38): ENSG00000117984
EnsemblGeneIds (GRCh37): ENSG00000117984
OMIM: 116840, Gene2Phenotype
CTSD is in 12 panels

2 reviews

Emma Ashton (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ceroid lipofuscinosis, neuronal, 10 610127

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • North London GLH
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 10 OMIM:610127
  • neuronal ceroid lipofuscinosis 10 MONDO:0012414
OMIM
116840
Clinvar variants
Variants in CTSD
Penetrance
None
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

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

16 Mar 2021, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: CTSD were changed from Ceroid lipofuscinosis, neuronal, 10 610127 to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: CTSD was added gene: CTSD was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10 610127