Amelogenesis imperfecta

Gene: SLC24A4

Green List (high evidence)

SLC24A4 (solute carrier family 24 member 4)
EnsemblGeneIds (GRCh38): ENSG00000140090
EnsemblGeneIds (GRCh37): ENSG00000140090
OMIM: 609840, Gene2Phenotype
SLC24A4 is in 3 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Marked as ready: October 19th 2017.
19 Oct 2017, 9:18 a.m.
Comment on list classification: Updated rating from Red to Green: Green external review, and present on the Leeds diagnostic AI panel. Probable DD-G2P gene (from PMID:23375655, 2 cases) but there are a number of additional papers (PMIDs:24621671, 25442250, 24532815) plus functional studies (e.g. PMID:27129268) with so sufficient (>3) cases for AI causation.
19 Oct 2017, 9:17 a.m.
PMID:24621671 (2014) identified a homozygous variant (A146V) in SLC24A4 in a 5.5 year old Turkish girl with AI. Her first-cousin parents were heterozygous for the variant.
19 Oct 2017, 9:07 a.m.
Probable DD-G2P gene for AI based on PMID:23375655 (2013) who identified a homozygous variant in the SLC24A4 gene (R339X) in 3 affected cousins in a consanguineous Pakistani family segregating AI. By Sanger sequencing, they identified another homozygous variant (S499C) in 2 affected cousins in another Pakistani family. The variants were not present in 170 ethnically matched controls, in 70 Gujarati Indian samples, or in VCFs from the 1000 Genomes Project database.
19 Oct 2017, 9:07 a.m.
Comment on mode of inheritance: Biallelic MOI supported by OMIM.
19 Oct 2017, 9:01 a.m.

Claire Smith (University of Leeds)

Green List (high evidence)

Currently on the Leeds AI diagnostic panel (Contact: Ruth Charlton). Mutations in SLC24A4 cause a hypomaturation/hypomineralised AI phenotype with autosomal recessive inheritance. Missense mutations affecting both alpha repeats and the cytoplasmic domain, as well as a nonsense mutation and a multi-exonic deletion, have been detected. See SLC24A4 LOVD: http://dna2.leeds.ac.uk/LOVD/genes/SLC24A4
3 Aug 2017, 2:18 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IIA5 615887

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Other
Phenotypes
  • amelogenesis imperfecta (non-syndromic form)
  • Amelogenesis imperfecta, type IIA5, 615887
  • hypomaturation/hypomineralised amelogenesis imperfecta
OMIM
609840
Clinvar variants
Variants in SLC24A4
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

19 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).

19 Oct 2017, Gel status: 4

Set publications

Rebecca Foulger (Genomics England curator)

Publications for SLC24A4 were set to 24621671; 23375655; 25442250; 24532815; 26502894; 27129268

19 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).

19 Oct 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for SLC24A4 were set to amelogenesis imperfecta (non-syndromic form); Amelogenesis imperfecta, type IIA5, 615887; hypomaturation/hypomineralised amelogenesis imperfecta

19 Oct 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for SLC24A4 was changed to BIALLELIC, autosomal or pseudoautosomal

18 Oct 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for SLC24A4 were set to 24621671; 23375655; 25442250; 24532815; 26502894

8 Jun 2017, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

SLC24A4 was added to Amelogenesis Imperfectapanel. Source: Radboud University Medical Center, Nijmegen

8 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SLC24A4 was added to Amelogenesis Imperfectapanel. Sources: Other

8 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SLC24A4 was created by rfoulger