Miscellaneous Metabolic Disorders
Gene: SLC30A10EnsemblGeneIds (GRCh38): ENSG00000196660
EnsemblGeneIds (GRCh37): ENSG00000196660
OMIM: 611146, Gene2Phenotype
SLC30A10 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Hypermanganesemia with dystonia-1 (HMNDYT1) is an 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 5 unrelated families reported.
Sources: Expert listCreated: 6 Feb 2021, 3:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hypermanganesemia with dystonia 1, MIM# 613280
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Hypermanganesemia with dystonia 1, MIM# 613280
- OMIM
- 611146
- Clinvar variants
- Variants in SLC30A10
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc30a10 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc30a10 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC30A10 was added gene: SLC30A10 was added to Miscellaneous Metabolic Disorders. Sources: Expert list Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A10 were set to 22341972 Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia 1, MIM# 613280 Review for gene: SLC30A10 was set to GREEN