Early onset or syndromic epilepsy
Gene: ADGRG1
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
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
Comment on list classification: Based on review by Arianna Tucci (Genomics England Curator)Created: 16 Jul 2018, 3:38 p.m.
seizures are part of the phenotype. enough evidence to mark as greenCreated: 29 Jun 2018, 1:57 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polymicrogyria, bilateral frontoparietal, 606854
Source Wessex and West Midlands GLH was added to ADGRG1.
Source NHS GMS was added to ADGRG1.
Arianna Tucci: seizures are part of the pheno
Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal, 606854
Mode of inheritance for gene: ADGRG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Gene: adgrg1 has been classified as Green List (High Evidence).
Expert Review Amber was added to ADGRG1. Panel: Genetic Epilepsy Syndromes
ADGRG1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services
ADGRG1 was created by Sarah Leigh