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Severe Paediatric 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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: SLC39A14; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hypermanganesemia with dystonia 2, 617013 (3) | ?Hyperostosis cranalis interna, 144755 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:25 p.m. | Last Modified: 20 Feb 2020, 5:25 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypermanganesemia with dystonia 2, 617013
  • ?Hyperostosis cranalis interna, 144755
OMIM
608736
Clinvar variants
Variants in SLC39A14
Penetrance
None
Publications
Panels with this gene

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