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Inborn errors of metabolism

Gene: SLC39A14

Green List (high evidence)

SLC39A14 (solute carrier family 39 member 14)
EnsemblGeneIds (GRCh38): ENSG00000104635
EnsemblGeneIds (GRCh37): ENSG00000104635
OMIM: 608736, Gene2Phenotype
SLC39A14 is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on list classification: Sufficient evidence to be green on this panel
Created: 14 Mar 2017, 4:43 p.m.
Associated with phenotype in OMIM, not in G2P. At least 5 variants reported in 5 unrelated cases
Created: 14 Mar 2017, 4:38 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypermanganesemia with dystonia 2 617013

Publications

History Filter Activity

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: SLC39A14 was added gene: SLC39A14 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A14 were set to 27231142 Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2