Early onset or syndromic epilepsy

Gene: ADGRG1

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)

previously called GPR56. AR bilateral frontoparietal polymicrogyria (BFPP). Piao et al 2000 - 2 consang Palestinian pedigrees - the first parents first cousins and 3 of 4 children aff - all developed medically refractory seizures. 2nd pedigree - from same village but no known relationship - first child and parents healthy cousins - similar pheno to family 1. Chang et al, 2003 - 19 patients from 10 kindreds incl those reported by Piao et al, 2004: 8/10 families consang and clinical features included seizures. Piao et al 2005, 6 unrelated families reported - all aff individuals had seizures. Functional studies have been done Luo et al, 2012, Chiang et al, 2011.

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
Polymicrogyria, bilateral frontoparietal, 606854

Publications

• 15044805

Comment on list classification: Based on review by Arianna Tucci (Genomics England Curator)

Created: 16 Jul 2018, 3:38 p.m.

Green List (high evidence)

seizures are part of the phenotype. enough evidence to mark as green

Created: 29 Jun 2018, 1:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polymicrogyria, bilateral frontoparietal, 606854