Amelogenesis imperfecta

Gene: C4orf26

Green List (high evidence)

C4orf26 (odontogenesis associated phosphoprotein)
EnsemblGeneIds (GRCh38): ENSG00000174792
EnsemblGeneIds (GRCh37): ENSG00000174792
OMIM: 614829, Gene2Phenotype
C4orf26 is in 4 panels

3 reviews

Louise Daugherty (Genomics England Curator)

added new-gene-name tag, new approved HGNC gene symbol is ODAPH
Created: 4 Sep 2017, 12:58 p.m.

Claire Smith (University of Leeds)

Green List (high evidence)

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

Rebecca Foulger (Genomics England curator)

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Amelogenesis imperfecta, type IIA4, 614832
  • Amelogenesis Imperfecta, Type IIA4, 614832
  • hypomineralized amelogenesis imperfecta
Tags
new-gene-name
OMIM
614829
Clinvar variants
Variants in C4orf26
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

16 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: 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: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for C4orf26 were set to 27558265; 22901946

8 Jun 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for C4orf26 were set to Amelogenesis imperfecta, type IIA4, 614832; Amelogenesis Imperfecta, Type IIA4, 614832; hypomineralized amelogenesis imperfecta

8 Jun 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for C4orf26 were set to 27558265

8 Jun 2017, Gel status: 2

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

C4orf26 was added to Amelogenesis Imperfectapanel. Source: UKGTN Model of inheritance for gene C4orf26 was set to BIALLELIC, autosomal or pseudoautosomal

8 Jun 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

C4orf26 was added to Amelogenesis Imperfectapanel. Source: Radboud University Medical Center, Nijmegen

8 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

C4orf26 was created by rfoulger

8 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

C4orf26 was added to Amelogenesis Imperfectapanel. Sources: Eligibility statement prior genetic testing