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Fetal anomalies

Gene: SLC24A4

Amber List (moderate evidence)

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

1 review

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.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • AMELOGENESIS IMPERFECTA.
OMIM
609840
Clinvar variants
Variants in SLC24A4
Penetrance
None
Panels with this gene

History Filter Activity

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.