Neonatal cholestasis
Gene: SLC30A10EnsemblGeneIds (GRCh38): ENSG00000196660
EnsemblGeneIds (GRCh37): ENSG00000196660
OMIM: 611146, Gene2Phenotype
SLC30A10 is in 10 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 12 variants identified in unrelated cases, however, the phenotype does not appear to be relevant to this panel.Created: 21 Aug 2018, 11:43 a.m.
Comment on phenotypes: Phenotype does not appear to be relevant to the neonatal cholestasis panel, as is it not always associated with hepatic damage and if it is this does not manifest in neonates.Created: 21 Aug 2018, 11:43 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Hypermanganesemia with dystonia 1, OMIM:613280
- 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
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: SLC30A10 were changed from Hypermanganesemia with dystonia 1 613280 to Hypermanganesemia with dystonia 1, OMIM:613280
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: slc30a10 has been classified as Red List (Low Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia 1 613280
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SLC30A10 were set to 25778823; 29193034; 27117033; 29179235
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia 1 613280
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: SLC30A10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)SLC30A10 was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)SLC30A10 was created by Ellen McDonagh