Early onset or syndromic epilepsy
Gene: COL18A1
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 Knobloch syndrome type 1 - primarily charactarised by typical eye abnormalities. Mony cases on OMIM - no mention of seizures/epilepsy. Paisan-Ruiz et al, 2009 - 2 sisters India eith a complex neuro disorder - incl seizures. Hom 2bp del indentified. Charsar et al, 2017 - 2 brothers non-consang Palestinian family with intractable epilepsy - hom for the same 2bp del as before. Corbett et al, 2015 - family of 4 aff sisters of unrelated parents of Northern European descent with refractory seizures - compound het for a del and a nonsense variant. The 2bp del is the same s the one reported previously. No functional work on any of these cases but there does soeem to be a strong link between this 2 bpdel and an epilepsy phenotype.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
Knobloch syndrome, 267750
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 truncating variants reported in 3 unrelated cases in which seizures are a phenotypic feature.Created: 13 Nov 2018, 11:08 a.m.
Seizures are part of the phenotype.Created: 10 Aug 2018, 5:21 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Knobloch syndrome, type 1, MIM#267750
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: COL18A1 were changed from Knobloch syndrome, type 1 267750 to Knobloch syndrome, type 1, OMIM:267750
Publications for gene: COL18A1 were set to 19160445; 28602933; 28950998
Source Wessex and West Midlands GLH was added to COL18A1.
Source NHS GMS was added to COL18A1.
Zornitza Stark: Seizures are part of the pheno
Gene: col18a1 has been classified as Green List (High Evidence).
Gene: col18a1 has been classified as Green List (High Evidence).
Publications for gene: COL18A1 were set to
Phenotypes for gene: COL18A1 were changed from to Knobloch syndrome, type 1 267750
Mode of inheritance for gene: COL18A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Expert Review Amber was added to COL18A1. Panel: Genetic Epilepsy Syndromes
COL18A1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
COL18A1 was created by Sarah Leigh