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  2. Ketotic hypoglycaemia
  3. PFKL
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Ketotic hypoglycaemia

Gene: PFKL

Red List (low evidence)
PFKL (phosphofructokinase, liver type)
EnsemblGeneIds (GRCh38): ENSG00000141959
EnsemblGeneIds (GRCh37): ENSG00000141959
OMIM: 171860, Gene2Phenotype
PFKL is in 1 panel

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

I don't know

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

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Remains on the red list due to expert review, and lack of evidence found in OMIM, Gene2Phenotype and literature search.
Created: 8 Jun 2016, 12:39 p.m.
Created: 8 Jun 2016, 12:39 p.m.

Panel version: 0.151

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Glycogen Storage Disease
  • Hemolytic anemia due to phosphofructokinase deficiency
OMIM
171860
Clinvar variants
Variants in PFKL
Penetrance
Complete
Panels with this gene

History Filter Activity

8 Jun 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).

8 Jun 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).

8 Jun 2016, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PFKL were set to Glycogen Storage Disease; Hemolytic anemia due to phosphofructokinase deficiency

19 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PFKL was added to Ketotic hypoglycaemiapanel. Sources: UKGTN