Hereditary Erythrocytosis
Gene: SLC30A10
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
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
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
Tag Q4_21_rating was removed from gene: SLC30A10.
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)
Publications for gene: SLC30A10 were set to PMID: 22341971; 22341972
Gene: slc30a10 has been classified as Amber List (Moderate Evidence).
Tag treatable tag was added to gene: SLC30A10. Tag Q4_21_rating tag was added to gene: SLC30A10.
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
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