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  2. Likely inborn error of metabolism
  3. SLC27A5
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Likely inborn error of metabolism

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

1 review

Arianna Tucci (Genomics England Curator)

Red List (low evidence)

One homozygous missense variant reported in one case. No OMIM phenotype number
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis)

Publications

Created: 23 Feb 2017, 5:16 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
  • Expert Review Red
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

13 Feb 2019, Gel status: 1

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to SLC27A5. Source London North GLH was added to SLC27A5.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: SLC27A5 was added gene: SLC27A5 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC27A5 were set to 27604308 Phenotypes for gene: SLC27A5 were set to Bile acid CoA ligase deficiency (Disorders of bile acid biosynthesis)