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Inborn errors of metabolism

Gene: SLC30A10

Green List (high evidence)

SLC30A10 (solute carrier family 30 member 10)
EnsemblGeneIds (GRCh38): ENSG00000196660
EnsemblGeneIds (GRCh37): ENSG00000196660
OMIM: 611146, Gene2Phenotype
SLC30A10 is in 10 panels

1 review

Sarah Leigh (Genomics England Curator)

Treatable Tag: The condition can involve hypermagnesemia, with gastrointestinal, neurologic, and other sequelae, and chelation therapy has been described as beneficial in some individuals
Created: 14 Mar 2017, 3:27 p.m.
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 5 variants reported in 5 unrelated families
Created: 12 Jan 2017, 11:15 a.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 2:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Parkinson Disease and Complex Parkinsonism

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Parkinson Disease and Complex Parkinsonism
  • Early onset dystonia
  • Hypermanganesemia with dystonia 1
  • Hypermanganesemia with dystonia, polycythemia, and cirrhosis (Disorder of magnesium metabolism)
OMIM
611146
Clinvar variants
Variants in SLC30A10
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC30A10. Source London North GLH was added to SLC30A10.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: SLC30A10 was added gene: SLC30A10 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A10 were set to 27604308 Phenotypes for gene: SLC30A10 were set to Parkinson Disease and Complex Parkinsonism; Early onset dystonia; Hypermanganesemia with dystonia 1; Hypermanganesemia with dystonia, polycythemia, and cirrhosis (Disorder of magnesium metabolism)