Neonatal cholestasis

Gene: SLC27A5

Red List (low evidence)

SLC27A5 (solute carrier family 27 member 5)
EnsemblGeneIds (GRCh38): ENSG00000083807
EnsemblGeneIds (GRCh37): ENSG00000083807
OMIM: 603314, Gene2Phenotype
SLC27A5 is in 4 panels

2 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. A homozygous SLC27A5 variant (c.1012C>T, p.H338Y) was identified in two sibblings; the index case was born prematurely (27 weeks) and developed jaundice, with extensive fibrosis and architectural distortion, in addition the bile acids in her plasma and urine were >85% unconjugated (non-amidated). She was also homozygous for a deleterious variant in ABCB11 (well established neonatal cholestasis associated gene). The sister was heterozygous for the ABCB11 variant, however, she had the same bile-acid phenotype but not the clinical liver damage, thereby suggesting that SLC27A5 may have some impact of the severity of the condition in this case (PMID 22089923).
Created: 21 Aug 2018, 10:22 a.m.

Louise Daugherty (Genomics England Curator)

I don't know

SLC27A5 is on the King's College Hospital NHS Foundation Trust diagnostic cholestasis gene panel for Bile acid synthesis disorders
Created: 25 Jul 2018, 4:27 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Emory Genetics Laboratory
Phenotypes
  • Neonatal and Adult Cholestasis
OMIM
603314
Clinvar variants
Variants in SLC27A5
Penetrance
None
Publications
Panels with this gene

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: slc27a5 has been classified as Red List (Low Evidence).

21 Aug 2018, Gel status: 1

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: SLC27A5 was changed from to BIALLELIC, autosomal or pseudoautosomal

21 Aug 2018, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SLC27A5 were set to 23415802; 22089923

21 Jun 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to SLC27A5. Panel: Cholestasis

18 May 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SLC27A5 was added to Cholestasis panel. Sources: Emory Genetics Laboratory

18 May 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

SLC27A5 was created by Ellen McDonagh