Neonatal cholestasis

Gene: SLC30A10

Red List (low evidence)

SLC30A10 (solute carrier family 30 member 10)
EnsemblGeneIds (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.

History Filter Activity

3 Sep 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

21 Aug 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: slc30a10 has been classified as Red List (Low Evidence).

21 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia 1 613280

21 Aug 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC30A10 were set to 25778823; 29193034; 27117033; 29179235

21 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia 1 613280

21 Aug 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SLC30A10 was changed from to BIALLELIC, autosomal or pseudoautosomal

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC30A10 was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services

21 Jun 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SLC30A10 was created by Ellen McDonagh