Neuronal ceroid lipofuscinosis
Gene: CTSD
CTSD (cathepsin D)
EnsemblGeneIds (GRCh38): ENSG00000117984
EnsemblGeneIds (GRCh37): ENSG00000117984
OMIM: 116840, Gene2Phenotype
CTSD is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000117984
EnsemblGeneIds (GRCh37): ENSG00000117984
OMIM: 116840, Gene2Phenotype
CTSD is in 12 panels
1 review
Emma Ashton (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- London North GLH
- Expert Review Green
- 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
-
- Undiagnosed metabolic disorders
- Intellectual disability
- Early onset or syndromic epilepsy
- Neuronal ceroid lipofuscinosis
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Structural eye disease
- Likely inborn error of metabolism
- Retinal disorders
- Glaucoma (developmental)
- Lysosomal storage disorder
- Fetal anomalies
History Filter Activity
17 Mar 2021, Gel status: 3
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10 OMIM:610127; neuronal ceroid lipofuscinosis 10 MONDO:0012414
13 Feb 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: CTSD was added gene: CTSD was added to Neuronal ceroid lipofuscinosis. Sources: Expert Review Green,London North GLH,NHS GMS Mode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal