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Mendeliome

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

2 reviews

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

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

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Literature
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
OMIM
603314
Clinvar variants
Variants in SLC27A5
Penetrance
None
Panels with this gene

History Filter Activity

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 Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SLC27A5 was set to Unknown