1. Panels
  2. Miscellaneous Metabolic Disorders
  3. SLC27A5
STRs in panel
Prev Next
Regions in panel
Prev Next

Miscellaneous Metabolic Disorders

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 5 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

2 siblings with a bile acid phenotype in a single consanguineous family with a homozygous variant.
Sources: Literature
Created: 9 Feb 2021, 2:05 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid-CoA ligase deficiency; Disorders of bile acid biosynthesis

Publications

Created: 9 Feb 2021, 2:05 a.m.

Panel version: 0.342

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Bile acid-CoA ligase deficiency
  • Disorders of bile acid biosynthesis
OMIM
603314
Clinvar variants
Variants in SLC27A5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

9 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC27A5 was added gene: SLC27A5 was added to Miscellaneous Metabolic Disorders. Sources: Literature Mode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC27A5 were set to 22089923; 27604308 Phenotypes for gene: SLC27A5 were set to Bile acid-CoA ligase deficiency; Disorders of bile acid biosynthesis Review for gene: SLC27A5 was set to RED