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Genetic epilepsy syndromes

Gene: ADGRG1

Green List (high evidence)

ADGRG1 (adhesion G protein-coupled receptor G1)
EnsemblGeneIds (GRCh38): ENSG00000205336
EnsemblGeneIds (GRCh37): ENSG00000205336
OMIM: 604110, Gene2Phenotype
ADGRG1 is in 13 panels

4 reviews

Rebecca Foulger (Genomics England curator)

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

Tracy Lester (Genetics laboratory, Oxford UK)

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

Sarah Leigh (Genomics England Curator)

Comment on list classification: Based on review by Arianna Tucci (Genomics England Curator)
Created: 16 Jul 2018, 3:38 p.m.

Arianna Tucci (Genomics England Curator)

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

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to ADGRG1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to ADGRG1.

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Arianna Tucci: seizures are part of the pheno

16 Jul 2018, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal, 606854

16 Jul 2018, Gel status: 3

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: ADGRG1 was changed from to BIALLELIC, autosomal or pseudoautosomal

16 Jul 2018, Gel status: 3

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: adgrg1 has been classified as Green List (High Evidence).

25 Jun 2018, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

Expert Review Amber was added to ADGRG1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

ADGRG1 was added to Genetic Epilepsy Syndromes panel. Sources: Victorian Clinical Genetics Services

25 Jun 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

ADGRG1 was created by Sarah Leigh