Neonatal cholestasis

Gene: SLC40A1

Red List (low evidence)

SLC40A1 (solute carrier family 40 member 1)
EnsemblGeneIds (GRCh38): ENSG00000138449
EnsemblGeneIds (GRCh37): ENSG00000138449
OMIM: 604653, Gene2Phenotype
SLC40A1 is in 11 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and not in Gen2Phen. At least 9 variants identified however, Hemochromatosis, type 4 606069 does not appear to be relevant to this panel as it does not develop in neonates or children.
Created: 21 Aug 2018, 11:52 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: slc40a1 has been classified as Red List (Low Evidence).

21 Aug 2018, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069

21 Aug 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SLC40A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC40A1 was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services

21 Jun 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SLC40A1 was created by Ellen McDonagh