Regression
Gene: SLC30A10

SLC30A10 (solute carrier family 30 member 10)
EnsemblGeneIds (GRCh38): ENSG00000196660
EnsemblGeneIds (GRCh37): ENSG00000196660
OMIM: 611146, Gene2Phenotype
SLC30A10 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved. More than 10 unrelated families reported.
Created: 1 Nov 2020, 7:05 a.m. | Last Modified: 1 Nov 2020, 7:05 a.m.

Panel Version: 0.202

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypermanganesemia with dystonia 1, MIM# 613280

Publications

Created: 1 Nov 2020, 7:05 a.m.
Last Modified: 1 Nov 2020, 7:05 a.m.
Panel version: 0.202

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Hypermanganesemia with dystonia 1, MIM# 613280

OMIM

611146

Clinvar variants

Variants in SLC30A10

Penetrance

None

Publications

Panels with this gene