Likely inborn error of metabolism
Gene: SLC40A1

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

Created: 23 Feb 2017, 5:16 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

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