Early onset or syndromic epilepsy
Gene: CTSD
AR Neuronal ceroid lipofuscinosis 10. Only Sintola et al, 2006 of the patients listed in OMIM record appear to have epilepsy as part of phentype.Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 610127
Publications
Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
Comment on list classification: Updated rating from Amber to Green. Epileptic seizures are an accepted phenotype of CLN10 disease (MIM:610127). Epilepsy reported as part of the symptoms in at least 2 families in literature (PMID:16670177 and PMID:26059544) PLUS animal model of epilepsy (PMID:10995834). Therefore 2 cases + clear animal model is sufficient evidence for diagnostic rating.Created: 20 Nov 2018, 12:16 p.m.
PMID:26059544 (Meyer et al 2015) report 2 siblings with CLN10 disease who showed intractable seizures and respiratory insufficiency immediately after birth. A homozygous insertion (c.268_269insC) in exon 3 of the cathepsin D gene was found in both infants.Created: 20 Nov 2018, 12:13 p.m.
Animal mode: CatD-deficient mice develop seizures and progressive retinal atrophy, becoming blind (See PMIDs:10995834 and 16685649).Created: 20 Nov 2018, 12:13 p.m.
Siintola et al. (2006, PMID:16670177) identified homozygosity for a 1-bp duplication (764dupA, Y255X) in exon 6 of the CTSD gene in a Pakistani infant with CLN10 disease (MIM:610127) from consanguineous parents. 2 other brothers were affected by no DNA was available. All 3 infants died within 10 days of birth, after demonstrating intractable seizures, spasticity, and apnea.Created: 20 Nov 2018, 12:12 p.m.
Seizures are a common feature of this metabolic disorder.Created: 12 Aug 2018, 6:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal 10, MIM#610127
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to CTSD.
Source NHS GMS was added to CTSD.
Zornitza Stark: Seizures are a common feature
Gene: ctsd has been classified as Green List (High Evidence).
Gene: ctsd has been classified as Green List (High Evidence).
Publications for gene: CTSD were set to
Mode of inheritance for gene: CTSD was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, 610127
Expert Review Amber was added to CTSD. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to CTSD. Panel: Genetic Epilepsy Syndromes
CTSD was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
CTSD was created by Sarah Leigh