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  3. SLC40A1
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Metal Metabolism Disorders

Gene: SLC40A1

Green List (high evidence)
SLC40A1 (solute carrier family 40 member 1)
EnsemblGeneIds (GRCh38): ENSG00000138449
EnsemblGeneIds (GRCh37): ENSG00000138449
OMIM: 604653, Gene2Phenotype
SLC40A1 is in 5 panels

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Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS Genomic Medicine Service
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • 606069 HEMOCHROMATOSIS, TYPE 4
  • HFE4
  • 606069 Hemochromatosis, type 4
OMIM
604653
Clinvar variants
Variants in SLC40A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Jan 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: SLC40A1 was added gene: SLC40A1 was added to Iron metabolism disorders. Sources: Genomics England PanelApp,Expert Review Green,NHS Genomic Medicine Service Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC40A1 were set to 16351644; 11431687 Phenotypes for gene: SLC40A1 were set to 606069 HEMOCHROMATOSIS, TYPE 4; HFE4; 606069 Hemochromatosis, type 4