Neonatal cholestasis
Gene: SLC30A10Comment 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.
Phenotypes for gene: SLC30A10 were changed from Hypermanganesemia with dystonia 1 613280 to Hypermanganesemia with dystonia 1, OMIM:613280
This panel has been subjected to extensive internal and external review.
Gene: slc30a10 has been classified as Red List (Low Evidence).
Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia 1 613280
Publications for gene: SLC30A10 were set to 25778823; 29193034; 27117033; 29179235
Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia 1 613280
Mode of inheritance for gene: SLC30A10 was changed from to BIALLELIC, autosomal or pseudoautosomal
SLC30A10 was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
SLC30A10 was created by Ellen McDonagh