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  2. Polymicrogyria and Schizencephaly
  3. ADGRG1
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Polymicrogyria and Schizencephaly

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

12 families reported in the original paper.

Note promoter deletion is common.
Created: 25 May 2020, 6:12 a.m. | Last Modified: 19 Oct 2021, 12:50 a.m.
Panel Version: 0.164

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polymicrogyria, bilateral frontoparietal, MIM#606854

Publications

Created: 25 May 2020, 6:12 a.m.
Last Modified: 19 Oct 2021, 12:50 a.m.
Panel version: 0.70

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Brain Malformations Flagship
Phenotypes
  • Polymicrogyria, bilateral frontoparietal, MIM#606854
Tags
5'UTR
OMIM
604110
Clinvar variants
Variants in ADGRG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Oct 2021, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag 5'UTR tag was added to gene: ADGRG1.

25 May 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).

25 May 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADGRG1 were changed from to Polymicrogyria, bilateral frontoparietal, MIM#606854

25 May 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADGRG1 were set to

25 May 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADGRG1 was added gene: ADGRG1 was added to Polymicrogyria and schizencephaly_AustralianGenomics_VCGS. Sources: Australian Genomics Health Alliance Brain Malformations Flagship,Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: ADGRG1 was set to Unknown