Early onset or syndromic epilepsy
Gene: CLN3
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
AR neuronal ceroid lipofuscinosis 3 - Batten disease, JNCL. Seizures are a feature although the visula loss is normally the first symptom. Paper ny Augustine et al, 2015 Dev Med Child Neurol 57(4):366-71 - Looking at 86 children with JNCL - 86% experienced at least 1 seizure most commonly generalised tonic-clonic, tend to be infrequent less often than once every 3 months bnut mild worsening with increasing age. Lots of reported variants - keep on panel? (this would be picked up by a retinal panel due to that being the first sign of disease).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, 204200
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 3 variants reported in 3 unrelated cases in which seizures are a phenotypic feature.Created: 13 Nov 2018, 10:57 a.m.
Seizures are a recognised feature of this metabolic disorder.Created: 10 Aug 2018, 4:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ceroid lipofuscinosis, neuronal, 3, MIM#204200
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to CLN3.
Source NHS GMS was added to CLN3.
Zornitza Stark: Seizures are a recognised feat
Gene: cln3 has been classified as Green List (High Evidence).
Gene: cln3 has been classified as Green List (High Evidence).
Publications for gene: CLN3 were set to
Phenotypes for gene: CLN3 were changed from to Ceroid lipofuscinosis, neuronal, 3 204200
Mode of inheritance for gene: CLN3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to CLN3. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to CLN3. Panel: Genetic Epilepsy Syndromes
CLN3 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
CLN3 was created by Sarah Leigh