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Inborn errors of metabolism

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 6 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on "Treatable" tag: The condition may present with failure to thrive, diarrhea, and dermatitis, and, if untreated, may evolve to include other sequelae of zinc deficiency, including immunodeficiency and neurologic manifestations, and medical management (eg, treatment with oral zinc therapy) can be effective
Created: 20 Mar 2017, 4:09 p.m.

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Acrodermatitis enteropathica (Disorder of zinc metabolism)
  • Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism)
OMIM
607059
Clinvar variants
Variants in SLC39A4
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 SLC39A4. Source London North GLH was added to SLC39A4.

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: SLC39A4 was added gene: SLC39A4 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A4 were set to 27604308 Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica (Disorder of zinc metabolism); Acrodermatitis enteropathica 201100 (Disorder of zinc metabolism)