Amelogenesis imperfecta
Gene: C4orf26added new-gene-name tag, new approved HGNC gene symbol is ODAPHCreated: 4 Sep 2017, 12:58 p.m.
Currently on the Leeds AI diagnostic panel (Contact: Ruth Charlton). Associated with hypomineralised AI. Six mutations in ten families identified to date include include only nonsense, frameshift and splice site variants predicted to escape NMD. However, the resulting proteins are predicted to be non-functional. To date no mouse model has been characterised. See C4orf26 LOVD: http://dna2.leeds.ac.uk/LOVD/genes/C4ORF26
Created: 2 Aug 2017, 2:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta, type IIA4 614832;
Publications
Comment when marking as ready: Marked as ready: August 16th 2017.Created: 16 Aug 2017, 8:35 a.m.
Comment on list classification: Updated rating from Amber to Green based on Green external review by Claire Smith and comment from Claire that >3 unrelated cases noted to date. Confirmed amelogenesis gene in DD-G2P.Created: 16 Aug 2017, 8:34 a.m.
PMID:27558265 (2016) identified a large consanguineous Moroccan family segregating different clinical subtypes of hypoplastic and hypomineralized AI. The authors identified a novel homozygous 8-bp deletion in C4orf26 (c.39_46del, p.Cys14Glyfs*18) segregating with hypomineralized-hypoplastic AI in this family.Created: 8 Jun 2017, 12:32 p.m.
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).
Publications for C4orf26 were set to 27558265; 22901946
Phenotypes for C4orf26 were set to Amelogenesis imperfecta, type IIA4, 614832; Amelogenesis Imperfecta, Type IIA4, 614832; hypomineralized amelogenesis imperfecta
Publications for C4orf26 were set to 27558265
C4orf26 was added to Amelogenesis Imperfectapanel. Source: UKGTN Model of inheritance for gene C4orf26 was set to BIALLELIC, autosomal or pseudoautosomal
C4orf26 was added to Amelogenesis Imperfectapanel. Source: Radboud University Medical Center, Nijmegen
C4orf26 was created by rfoulger
C4orf26 was added to Amelogenesis Imperfectapanel. Sources: Eligibility statement prior genetic testing