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Newborns main panel

Gene: SLC39A14

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 36733764 - 1 case and review of 10 other families from literature. PMID: 36247901 - 9 cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC39A14. Added phenotypes Hypermanganesemia with dystonia 2 for gene: SLC39A14 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SLC39A14. Added phenotypes Hypermanganesemia with dystonia 2 for gene: SLC39A14 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SLC39A14. Added phenotypes Hypermanganesemia with dystonia 2 for gene: SLC39A14 Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hypermanganesemia with dystonia 2 for gene: SLC39A14

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SLC39A14 was added gene: SLC39A14 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal