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Inborn errors of metabolism

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 10 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

More than 3 families described with the relevant phenotype and monoallelic variants
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hemochromatosis, type 4 606069 (Disorder of iron metabolism)

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hemochromatosis, type 4 606069 (Disorder of iron metabolism)
  • Hereditary haemochromatosis Type 4 (Disorder of iron metabolism)
OMIM
604653
Clinvar variants
Variants in SLC40A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC40A1. Source London North GLH was added to SLC40A1.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SLC40A1 was added gene: SLC40A1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC40A1 were set to 27604308; 11518736; 11431687; 10471458 Phenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069 (Disorder of iron metabolism); Hereditary haemochromatosis Type 4 (Disorder of iron metabolism)