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Early onset or syndromic epilepsy v1.191 CTSD Rebecca Foulger Source Wessex and West Midlands GLH was added to CTSD.
Early onset or syndromic epilepsy v1.190 CTSD Rebecca Foulger Source NHS GMS was added to CTSD.
Early onset or syndromic epilepsy v1.189 CTSD Rebecca Foulger edited their review of gene: CTSD: Added comment: 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. ; Changed rating: AMBER
Early onset or syndromic epilepsy v1.188 CTSD Tracy Lester reviewed gene: CTSD: Rating: GREEN; Mode of pathogenicity: ; Publications: 16670177; Phenotypes: Ceroid lipofuscinosis, neuronal, 610127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.966 CTSD Rebecca Foulger Marked gene: CTSD as ready
Early onset or syndromic epilepsy v0.966 CTSD Rebecca Foulger Gene: ctsd has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.966 CTSD Rebecca Foulger Classified gene: CTSD as Green List (high evidence)
Early onset or syndromic epilepsy v0.966 CTSD Rebecca Foulger Added comment: 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.
Early onset or syndromic epilepsy v0.966 CTSD Rebecca Foulger Gene: ctsd has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v0.965 CTSD Rebecca Foulger commented on gene: CTSD: 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.
Early onset or syndromic epilepsy v0.965 CTSD Rebecca Foulger commented on gene: CTSD: Animal mode: CatD-deficient mice develop seizures and progressive retinal atrophy, becoming blind (See PMIDs:10995834 and 16685649).
Early onset or syndromic epilepsy v0.965 CTSD Rebecca Foulger commented on gene: CTSD
Early onset or syndromic epilepsy v0.965 CTSD Rebecca Foulger Publications for gene: CTSD were set to
Early onset or syndromic epilepsy v0.956 CTSD Rebecca Foulger Mode of inheritance for gene: CTSD was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v0.955 CTSD Rebecca Foulger Phenotypes for gene: CTSD were changed from to Ceroid lipofuscinosis, neuronal, 10, 610127
Early onset or syndromic epilepsy CTSD Zornitza Stark reviewed gene: CTSD
Early onset or syndromic epilepsy CTSD Sarah Leigh Added gene to panel