Amelogenesis imperfecta
Gene: GPR68Comment when marking as ready: Marked as Ready: 18th October 2017.Created: 18 Oct 2017, 11:42 a.m.
Added 'deletions' tag based on expert review by Claire Smith, and cases in PMID:27693231.Created: 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).Created: 28 Aug 2017, 9:34 a.m.
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/GPR68Created: 3 Aug 2017, 1:55 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta, hypomaturation type, IIA6 617217
Publications
This panel has been promoted after review by Claire Smith (Leeds) and further personal consultation with Dr Smith
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for GPR68 were set to Amelogenesis imperfecta, hypomaturation type, IIA6, 617217
Phenotypes for GPR68 were set to Amelogenesis Imperfecta
Publications for GPR68 were set to 27693231
GPR68 was added to Amelogenesis Imperfectapanel. Source: UKGTN Model of inheritance for gene GPR68 was set to BIALLELIC, autosomal or pseudoautosomal
GPR68 was added to Amelogenesis Imperfectapanel. Sources: Eligibility statement prior genetic testing
GPR68 was created by rfoulger