Cholestasis
Gene: SLC27A5
SLC27A5 (solute carrier family 27 member 5)
EnsemblGeneIds (GRCh38): ENSG00000083807
EnsemblGeneIds (GRCh37): ENSG00000083807
OMIM: 603314, Gene2Phenotype
SLC27A5 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000083807
EnsemblGeneIds (GRCh37): ENSG00000083807
OMIM: 603314, Gene2Phenotype
SLC27A5 is in 5 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Single case report of homozygous missense variant in a child with an inborn error of bile acid metabolism, variant did not appear to segregate with disease in a sibling; no functional evidence.Created: 20 Nov 2019, 7:58 p.m. | Last Modified: 20 Nov 2019, 7:58 p.m.
Panel Version: 0.0
Phenotypes
Disorder of bile acid metabolism
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Victorian Clinical Genetics Services
- Phenotypes
-
- Disorder of bile acid metabolism
- OMIM
- 603314
- Clinvar variants
- Variants in SLC27A5
- Penetrance
- None
- Panels with this gene
History Filter Activity
1 Nov 2020, Gel status: 1
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: SLC27A5 were changed from to Disorder of bile acid metabolism
20 Nov 2019, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc27a5 has been classified as Red List (Low Evidence).
20 Nov 2019, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc27a5 has been classified as Red List (Low Evidence).
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SLC27A5 was added gene: SLC27A5 was added to Cholestasis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC27A5 was set to Unknown