Amelogenesis imperfecta

Gene: GPR68

Comment 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.

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

Created: 3 Aug 2017, 1:55 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, hypomaturation type, IIA6 617217

Publications

• PMID: 27693231