Early-onset Parkinson disease
Gene: SLC39A14EnsemblGeneIds (GRCh38): ENSG00000104635
EnsemblGeneIds (GRCh37): ENSG00000104635
OMIM: 608736, Gene2Phenotype
SLC39A14 is in 10 panels
1 review
Claire Fryer-Smith (University of Melbourne)
Hypermagnesemia with dystonia-2 (HMNDYT2) is an autosomal recessive neurodegenerative disorder with variable features of parkinsonism.
Excessive accumulation of manganese in patients results in rapidly progressive childhood-onset parkinsonism–dystonia. In vitro studies show mutations in SLC39A14 impair manganese transport (PMID: 2723114). Patients with novel autosomal recessive manganese transporter defect caused by biallelic mutations in SLC39A14 are described in the following: PMID: 27231142, 32626807, 29685658, 30232769.Created: 7 Sep 2023, 3:10 a.m. | Last Modified: 7 Sep 2023, 3:10 a.m.
Panel Version: 0.260
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypermanganesemia with dystonia 2 (MIM# 617013)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance Complex Neurology Flagship
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hypermanganesemia with dystonia 2 (MIM# 617013)
- OMIM
- 608736
- Clinvar variants
- Variants in SLC39A14
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc39a14 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC39A14 were changed from to Hypermanganesemia with dystonia 2 (MIM# 617013)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SLC39A14 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SLC39A14 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: SLC39A14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC39A14 was added gene: SLC39A14 was added to Early onset Parkinson disease_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Complex Neurology Flagship Mode of inheritance for gene: SLC39A14 was set to Unknown