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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

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

SLC39A14, HGNC:20858. from OMIM; Hypermanganesemia with dystonia-2 (HMNDYT2) is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit (see PMID:27231142)
More than 5 unrelated families reported.
Created: 3 Feb 2025, 6:57 a.m. | Last Modified: 3 Feb 2025, 6:57 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypermanganesemia with dystonia 2, MIM# 617013

Publications

Created: 3 Feb 2025, 6:57 a.m.
Last Modified: 3 Feb 2025, 6:57 a.m.
Panel version: 1.1397

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Hypermanganesaemia with dystonia 2, MIM# 617013
OMIM
608736
Clinvar variants
Variants in SLC39A14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: slc39a14 has been classified as Green List (High Evidence).

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC39A14 were changed from Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive to Hypermanganesaemia with dystonia 2, MIM# 617013

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SLC39A14 were set to

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SLC39A14 was added gene: SLC39A14 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, 617013 (3), Autosomal recessive