Neonatal cholestasis
Gene: SLC27A5
SLC27A5 (solute carrier family 27 member 5)
EnsemblGeneIds (GRCh38): ENSG00000083807
EnsemblGeneIds (GRCh37): ENSG00000083807
OMIM: 603314, Gene2Phenotype
SLC27A5 is in 4 panels
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)
SLC27A5 is on the King's College Hospital NHS Foundation Trust diagnostic cholestasis gene panel for Bile acid synthesis disordersCreated: 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