Ketotic hypoglycaemia

Gene: PFKM

Red List (low evidence)

PFKM (phosphofructokinase, muscle)
EnsemblGeneIds (GRCh38): ENSG00000152556
EnsemblGeneIds (GRCh37): ENSG00000152556
OMIM: 610681, Gene2Phenotype
PFKM is in 14 panels

1 review

Alexander Broomfield (Central Manchester Foundation Trust)

Red List (low evidence)

Principle Skletal muscle disease does not present with hypoglycaemic episodes
Created: 20 Oct 2015, 6:03 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Glycogen storage disease VII, 232800
  • Glycogen Storage Disease Type VII
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
OMIM
610681
Clinvar variants
Variants in PFKM
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: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Oct 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PFKM was added to Ketotic hypoglycaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN