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  2. Ataxia - paediatric
  3. ADGRG1
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Ataxia - paediatric

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 14 panels

3 reviews

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

Created: 19 Oct 2021, 12:48 a.m.
Last Modified: 19 Oct 2021, 12:48 a.m.
Panel version: Imported from Mendeliome panel version 0.9406

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

Created: 15 Jun 2020, 1:11 a.m.
Last Modified: 15 Jun 2020, 1:11 a.m.
Panel version: Imported from Mendeliome panel version 0.3074

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

Created: 27 Dec 2019, 4:02 a.m.

Panel version: Imported from Ataxia_VCGS panel version 0.35

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Polymicrogyria, Frontoparietal, 606854
  • Polymicrogyria, perisylvian type, 615752
OMIM
604110
Clinvar variants
Variants in ADGRG1
Penetrance
None
Panels with this gene

History Filter Activity

17 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Dec 2019, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ADGRG1 was added gene: ADGRG1 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADGRG1 were set to Polymicrogyria, Frontoparietal, 606854; Polymicrogyria, perisylvian type, 615752