Genes in panel
STRs in panel
Prev Next

Undiagnosed metabolic disorders

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
  • Radboud University Medical Center, Nijmegen
  • Literature
Phenotypes
  • Hypermanganesemia with dystonia 2 617013
Tags
treatable
OMIM
608736
Clinvar variants
Variants in SLC39A14
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

14 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

14 Mar 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SLC39A14 was created by sleigh

14 Mar 2017, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

SLC39A14 was added to Undiagnosed metabolic disorderspanel. Sources: Radboud University Medical Center, Nijmegen,Literature,Expert Review