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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 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple families and a mouse model.
Created: 13 Aug 2021, 12:52 a.m. | Last Modified: 13 Aug 2021, 12:53 a.m.
Panel Version: 0.42

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amelogenesis imperfecta, type IIA5, MIM# 615887

Publications

Created: 13 Aug 2021, 12:52 a.m.
Last Modified: 13 Aug 2021, 12:53 a.m.
Panel version: 0.42

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Amelogenesis imperfecta, type IIA5, MIM# 615887
OMIM
609840
Clinvar variants
Variants in SLC24A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Aug 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc24a4 has been classified as Green List (High Evidence).

13 Aug 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC24A4 were changed from Amelogenesis imperfecta, type IIA5, 615887; amelogenesis imperfecta (non-syndromic form); hypomaturation/hypomineralised amelogenesis imperfecta to Amelogenesis imperfecta, type IIA5, MIM# 615887

7 May 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC24A4 was added gene: SLC24A4 was added to Amelogenesis imperfecta. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: SLC24A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC24A4 were set to 24621671; 25442250; 24532815; 26502894; 27129268; 23375655 Phenotypes for gene: SLC24A4 were set to Amelogenesis imperfecta, type IIA5, 615887; amelogenesis imperfecta (non-syndromic form); hypomaturation/hypomineralised amelogenesis imperfecta