Early onset dystonia
Gene: SLC39A14
SLC39A14 (solute carrier family 39 member 14)
EnsemblGeneIds (GRCh38): ENSG00000104635
EnsemblGeneIds (GRCh37): ENSG00000104635
OMIM: 608736, Gene2Phenotype
SLC39A14 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000104635
EnsemblGeneIds (GRCh37): ENSG00000104635
OMIM: 608736, Gene2Phenotype
SLC39A14 is in 10 panels
1 review
Sarah Leigh (Genomics England Curator)
Inclusion of this as a green gene on this panel is appropriate, based on the review in the Structural basal ganglia disorders panel and the views of clinical expertCreated: 21 Mar 2017, 1:35 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypermanganesemia with dystonia 2 617013
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review
- Phenotypes
-
- Hypermanganesemia with dystonia 2 617013
- OMIM
- 608736
- Clinvar variants
- Variants in SLC39A14
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Structural basal ganglia disorders
- Likely inborn error of metabolism
- Parkinson Disease and Complex Parkinsonism
- Adult onset dystonia, chorea or related movement disorder
- Early onset dystonia
- DDG2P
History Filter Activity
21 Mar 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)SLC39A14 was added to Early onset dystoniapanel. Sources: Expert Review
21 Mar 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)SLC39A14 was created by sleigh