Structural basal ganglia disorders
Gene: SLC30A10
SLC30A10 (solute carrier family 30 member 10)
EnsemblGeneIds (GRCh38): ENSG00000196660
EnsemblGeneIds (GRCh37): ENSG00000196660
OMIM: 611146, Gene2Phenotype
SLC30A10 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000196660
EnsemblGeneIds (GRCh37): ENSG00000196660
OMIM: 611146, Gene2Phenotype
SLC30A10 is in 10 panels
2 reviews
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 individualsCreated: 14 Mar 2017, 3:36 p.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, 3:36 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 1, OMIM:613280
- Tags
- OMIM
- 611146
- Clinvar variants
- Variants in SLC30A10
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Neonatal cholestasis
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Hereditary Erythrocytosis
- 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
History Filter Activity
10 Dec 2021, Gel status: 3
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC30A10 were changed from to Hypermanganesemia with dystonia 1, OMIM:613280
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 SLC30A10 were set to 22341972; 22341971
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)SLC30A10 was added to Structural basal ganglia disorderspanel. Sources: Literature
1 Mar 2017, Gel status: 0
Created
Manju Kurian (UCL-Institute of Child Health)SLC30A10 was created by Manju