Cerebral vascular malformations

Gene: ADGRG1

Red List (low evidence)

ADGRG1 (adhesion G protein-coupled receptor G1)
EnsemblGeneIds (GRCh38): ENSG00000205336
EnsemblGeneIds (GRCh37): ENSG00000205336
OMIM: 604110, Gene2Phenotype
ADGRG1 is in 14 panels

4 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Red List (low evidence)

CVM/CCM is not a feature of this condition.
Created: 25 Nov 2024, 6:33 a.m. | Last Modified: 25 Nov 2024, 6:33 a.m.
Panel Version: 0.39

Phenotypes
bilateral frontoparietal polymicrogyria MONDO:0011738

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

12 families reported in the original paper. ID, seizures and cerebellar abnormalities are common features in addition to the PMG.
Created: 19 Oct 2021, 12:48 a.m. | Last Modified: 19 Oct 2021, 12:48 a.m.
Panel Version: 0.9406

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polymicrogyria, bilateral frontoparietal, MIM#606854

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM #615752 caused by a recurring 15bp del within a regulatory element, also autosomal recessive
Created: 15 Jun 2020, 1:11 a.m. | Last Modified: 15 Jun 2020, 1:11 a.m.
Panel Version: 0.3074

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polymicrogyria, bilateral frontoparietal 606854; Polymicrogyria, bilateral perisylvian 615752

Publications

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Ataxia is part of the phenotype
Sources: Expert list
Created: 27 Dec 2019, 4:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polymicrogyria, bilateral frontoparietal, MIM#606854

History Filter Activity

26 Nov 2024, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adgrg1 has been classified as Red List (Low Evidence).

26 Nov 2024, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADGRG1 were changed from Cerebral Malformation Disorders to bilateral frontoparietal polymicrogyria MONDO:0011738

18 May 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADGRG1 was added gene: ADGRG1 was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: ADGRG1 was set to Phenotypes for gene: ADGRG1 were set to Cerebral Malformation Disorders