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 1 panel

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked as Ready: 18th October 2017.
18 Oct 2017, 11:42 a.m.
Added 'deletions' tag based on expert review by Claire Smith, and cases in PMID:27693231.
28 Aug 2017, 9:35 a.m.
Comment on list classification: Updated rating from Red to Green after discussion with Helen Brittain: Green expert review plus 3 unrelated cases supporting causation (including a 450bp deletion).
28 Aug 2017, 9:34 a.m.

Claire Smith (University of Leeds)

Green List (high evidence)

Three families with autosomal recessive hypomineralised AI have been reported with mutations in the single exon GPR68 gene. All are predicted to result in loss of function. Two of the families carried deletions expected to remove histidine residues shown to be crucial to the pH sensitivity or the structural integrity of the protein. The third carried a missense variant predicted to destabilise the second transmembrane helix. See GPR68 LOVD: http://dna2.leeds.ac.uk/LOVD/genes/GPR68
3 Aug 2017, 1:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, hypomaturation type, IIA6 617217

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Amelogenesis imperfecta, hypomaturation type, IIA6, 617217
Tags
deletions
OMIM
601404
Clinvar variants
Variants in GPR68
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

2 Feb 2018, Gel status: 3

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith

18 Oct 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

28 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

16 Aug 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for GPR68 were set to Amelogenesis imperfecta, hypomaturation type, IIA6, 617217

12 Jun 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for GPR68 were set to Amelogenesis Imperfecta

12 Jun 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for GPR68 were set to 27693231

8 Jun 2017, Gel status: 1

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

GPR68 was added to Amelogenesis Imperfectapanel. Source: UKGTN Model of inheritance for gene GPR68 was set to BIALLELIC, autosomal or pseudoautosomal

8 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

GPR68 was added to Amelogenesis Imperfectapanel. Sources: Eligibility statement prior genetic testing

8 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

GPR68 was created by rfoulger