Early onset or syndromic epilepsy

Gene: COL18A1

I don't know

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

Green List (high evidence)

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

• 19160445

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.

Green List (high evidence)

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