1. Panels
  2. Fetal anomalies
  3. SLC24A4
Genes in panel
Prev Next

Fetal anomalies

Gene: SLC24A4

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

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Stephanie Allen (Birmingham Women's NHS Foundation Trust)

Red List (low evidence)

Currently amber, and is green on amelogenesis imperfecta panel, present on the Leeds diagnostic AI panel. Probable DDG2P 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. Can't see that this would be prenatally detectable.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IIA5, MIM#615887

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for AMELOGENESIS IMPERFECTA.
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • NHS GMS
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Amelogenesis imperfecta, type IIA5, OMIM:615887
OMIM
609840
Clinvar variants
Variants in SLC24A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SLC24A4 were changed from Amelogenesis imperfecta, type IIA5, OMIM:615887; AMELOGENESIS IMPERFECTA. to Amelogenesis imperfecta, type IIA5, OMIM:615887

20 Feb 2025, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to SLC24A4. Source Expert Review Red was added to SLC24A4. Added phenotypes Amelogenesis imperfecta, type IIA5, OMIM:615887 for gene: SLC24A4 Publications for gene: SLC24A4 were updated from to 23375655; 24621671 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: SLC24A4 was added gene: SLC24A4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SLC24A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC24A4 were set to AMELOGENESIS IMPERFECTA.