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DDG2P

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

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for SLC39A14-related early onset dystonia parkinsonism are definitive, biallelic_autosomal and loss of function (PMIDs: 27231142, 36138644, 36247901). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03750.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.
Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0014864; SLC39A14-related early onset dystonia parkinsonism; OMIM:617013.0

Publications

History Filter Activity

13 Feb 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SLC39A14 was added gene: SLC39A14 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC39A14 were set to 36247901; 27231142; 36138644 Phenotypes for gene: SLC39A14 were set to MONDO:0014864; OMIM:617013.0; SLC39A14-related early onset dystonia parkinsonism