1. Panels
  2. Ketotic hypoglycaemia
  3. SLC27A5
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Ketotic hypoglycaemia

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

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added by reviewer.
Created: 7 Apr 2016, 3:59 p.m.
Created: 7 Apr 2016, 3:59 p.m.

Panel version: 0.84

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • choleostatic jaundice and hepatomegaly
OMIM
603314
Clinvar variants
Variants in SLC27A5
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Apr 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for SLC27A5 was changed to BIALLELIC, autosomal or pseudoautosomal

7 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

19 Oct 2015, Gel status: 0

Added New Source

Alexander Broomfield (Central Manchester Foundation Trust)

SLC27A5 was added to Ketotic hypoglycaemiapanel. Sources: Literature