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Amelogenesis imperfecta

Gene: GPR68

Green List (high evidence)
GPR68 (G protein-coupled receptor 68)
EnsemblGeneIds (GRCh38): ENSG00000119714
EnsemblGeneIds (GRCh37): ENSG00000119714
OMIM: 601404, Gene2Phenotype
GPR68 is in 2 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 27693231 - three families with amelogenesis imperfecta (PTC, missense, large inframe del of >100aa)

PMID: 32279993 - functional studies on missense variant (p.L74P) found in family from PMID: 27693231. Resulted in protein mislocalization
Created: 16 Jun 2021, 1:04 a.m. | Last Modified: 16 Jun 2021, 1:04 a.m.
Panel Version: 0.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, hypomaturation type, IIA6 MIM#617217

Publications

Created: 16 Jun 2021, 1:04 a.m.
Last Modified: 16 Jun 2021, 1:04 a.m.
Panel version: 0.1

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, hypomaturation type, IIA6 MIM#617217
OMIM
601404
Clinvar variants
Variants in GPR68
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: gpr68 has been classified as Green List (High Evidence).

12 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: GPR68 were changed from Amelogenesis imperfecta, hypomaturation type, IIA6, 617217 to Amelogenesis imperfecta, hypomaturation type, IIA6 MIM#617217

12 Aug 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: GPR68 were set to 27693231

7 May 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GPR68 was added gene: GPR68 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GPR68 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GPR68 were set to 27693231 Phenotypes for gene: GPR68 were set to Amelogenesis imperfecta, hypomaturation type, IIA6, 617217