Hereditary Erythrocytosis
Gene: SLC30A10EnsemblGeneIds (GRCh38): ENSG00000196660
EnsemblGeneIds (GRCh37): ENSG00000196660
OMIM: 611146, Gene2Phenotype
SLC30A10 is in 10 panels
3 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 1 Feb 2023, 8:29 a.m. | Last Modified: 1 Feb 2023, 8:29 a.m.
Panel Version: 1.46
Arina Puzriakova (Genomics England Curator)
Comment on list classification: New gene added to this panel by external reviewer Dmitrijs Rots. There is enough evidence to promote this gene to Green at the next GMS panel update. All affected individuals reported to date (>3) had polycythemia at the time of diagnosis, which can precede the onset of neurologic manifestations and therefore it is worth including SLC30A10 on this panel.Created: 10 Dec 2021, 12:16 p.m. | Last Modified: 10 Dec 2021, 12:16 p.m.
Panel Version: 1.41
Dmitrijs Rots (Children's Clinical University Hospital)
In 6 individuals from two families and 14 individuals from 8 families reported in in 22341971 and 22341972, respectively - all have erythrocytosis/polycytemia.
Sources: LiteratureCreated: 30 Nov 2021, 9:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Erythrocytosis; Polycytemia; Hypermanganesemia; Parkinsonism; Dystonia; Liver disease
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Hypermanganesemia with dystonia 1, OMIM:613280
- Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
- Tags
- OMIM
- 611146
- Clinvar variants
- Variants in SLC30A10
- Penetrance
- None
- 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
Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q4_21_rating was removed from gene: SLC30A10.
Added New Source, Added New Source, Status Update
Achchuthan Shanmugasundram (Genomics England Curator)Source Expert Review Green was added to SLC30A10. Source NHS GMS was added to SLC30A10. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: SLC30A10 were set to PMID: 22341971; 22341972
Entity classified by Genomics England curator
Arina Puzriakova (Genomics England Curator)Gene: slc30a10 has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag
Arina Puzriakova (Genomics England Curator)Tag treatable tag was added to gene: SLC30A10. Tag Q4_21_rating tag was added to gene: SLC30A10.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC30A10 were changed from Erythrocytosis; Polycytemia; Hypermanganesemia; Parkinsonism; Dystonia; Liver disease to Hypermanganesemia with dystonia 1, OMIM:613280; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Dmitrijs Rots (Children's Clinical University Hospital)gene: SLC30A10 was added gene: SLC30A10 was added to Hereditary Erythrocytosis. Sources: Literature Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A10 were set to PMID: 22341971; 22341972 Phenotypes for gene: SLC30A10 were set to Erythrocytosis; Polycytemia; Hypermanganesemia; Parkinsonism; Dystonia; Liver disease Review for gene: SLC30A10 was set to GREEN