Structural basal ganglia disorders
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
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on "Treatment" tag: Chelation with disodium calcium edetate lowers blood manganese levels in patients and can lead to striking clinical improvement (PMID: 27231142)Created: 16 Mar 2017, 10:55 a.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least 5 variants reported in 5 unrelated casesCreated: 14 Mar 2017, 4:19 p.m.
Manju Kurian (UCL-Institute of Child Health)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Hypermanganesemia with dystonia 2 617013
- Tags
- OMIM
- 608736
- Clinvar variants
- Variants in SLC39A14
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- 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
- Intellectual disability
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
History Filter Activity
16 Mar 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)promoted 16/03/2017
14 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
14 Mar 2017, Gel status: 4
Set publications
Sarah Leigh (Genomics England Curator)Publications for SLC39A14 were set to 27231142
14 Mar 2017, Gel status: 4
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for SLC39A14 were set to Hypermanganesemia with dystonia 2 617013
14 Mar 2017, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Mar 2017, Gel status: 0
Added New Source
Manju Kurian (UCL-Institute of Child Health)SLC39A14 was added to Structural basal ganglia disorderspanel. Sources: Literature
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)SLC39A14 was created by Manju