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Prepair 500+

Gene: SLC39A4

Green List (high evidence)

SLC39A4 (solute carrier family 39 member 4)
EnsemblGeneIds (GRCh38): ENSG00000147804
EnsemblGeneIds (GRCh37): ENSG00000147804
OMIM: 607059, Gene2Phenotype
SLC39A4 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Acrodermatitis enteropathica is characterized by intermittent simultaneous occurrence of diarrhoea and dermatitis with failure to thrive. Well established gene-disease association.
Created: 24 Apr 2025, 4:53 a.m. | Last Modified: 24 Apr 2025, 4:53 a.m.
Panel Version: 1.2080

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acrodermatitis enteropathica, MIM# 201100

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
  • Mackenzie's Mission
Phenotypes
  • Acrodermatitis enteropathica, MIM# 201100
OMIM
607059
Clinvar variants
Variants in SLC39A4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 May 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc39a4 has been classified as Green List (High Evidence).

27 May 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica, 201100 (3) to Acrodermatitis enteropathica, MIM# 201100

27 May 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC39A4 were set to

3 Nov 2023, Gel status: 3

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

Seb Lunke (Victorian Clinical Genetics Services)

gene: SLC39A4 was added gene: SLC39A4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica, 201100 (3)