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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

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene SLC39A14 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes ?Hyperostosis cranalis interna, 144755; Hypermanganesemia with dystonia 2, 617013 for gene: SLC39A14

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene SLC39A14 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Hypermanganesemia with dystonia 2, 617013; ?Hyperostosis cranalis interna, 144755 for gene: SLC39A14

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to SLC39A14.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to SLC39A14. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: SLC39A14 was added gene: SLC39A14 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC39A14 was set to