Genetic epilepsy syndromesGene: CLN8
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 8 northern epilepsy variant - progressive epilepsy with mentsal retardation. Finnish founder mutation. Ranta et al, 1999 - In 22 Finnish patients with Northern epilepsy all hom for R24G. Carrier freq was 1/135. AR neuronal ceroid lipofuscinosis 8 - seizures also part of this phentoype and many cases reported: Ranta et al, 2004 - 4 hom mutations in affected members of 9 families with the so called Turkish variant T107M. Cannelli et al 2006 - hom or compound het in 3 unrelated Italian parents. Many reported variants listed on HGMD Pro.
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
Ceroid lipofuscinosis, neuronal, 8,600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant,610003
Gene originally listed on the Intellectual disability panel V2.42.
Associated with relevant phenotypes in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported as homozygotes in at least 5 unrelated cases of Ceroid lipofuscinosis, neuronal, 8 600143, an additional "Founder" variant has been reported in 22 Finnish patients with the Northern epilepsy variant of CLN8 (MIM 610003)(PMID 10508524)
Created: 9 Apr 2018, 4:27 p.m.
Comment on phenotypes: Both phenotypes include seizures
Created: 9 Apr 2018, 4:19 p.m.
Source Wessex and West Midlands GLH was added to CLN8.
Source NHS GMS was added to CLN8.
Sarah Leigh: Comment on phenotypes: Both ph
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to CLN8. Panel: Genetic Epilepsy Syndromes
This gene has been classified as Green List (High Evidence).
Phenotypes for CLN8 were set to Ceroid lipofuscinosis, neuronal, 8 600143; Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant 610003
Publications for CLN8 were set to 19431184; 16570191; 16570191
Mode of inheritance for CLN8 was changed from to BIALLELIC, autosomal or pseudoautosomal
CLN8 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
CLN8 was created by Sarah Leigh