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BabyScreen+ newborn screening

Gene: PFKM

Red List (low evidence)

PFKM (phosphofructokinase, muscle)
EnsemblGeneIds (GRCh38): ENSG00000152556
EnsemblGeneIds (GRCh37): ENSG00000152556
OMIM: 610681, Gene2Phenotype
PFKM is in 12 panels

1 review

John Christodoulou (Murdoch Children's Research Institute)

Red List (low evidence)

GSD type VII - mostly presents in adulthood with rhabdomyolysis, myopathy, exercise intolerance, haemolysis, gout. May cause childhood onset progressive myopathy (PMID: 22364848)

There is a rare form with onset in infancy - limb weakness, seizures, cortical blindness, and corneal clouding, and respiratory failure

muscle biospy - Vacuolar myopathy with polyglucosan deposits

No specific therapy
Created: 1 Nov 2022, 11:01 a.m. | Last Modified: 1 Nov 2022, 11:01 a.m.
Panel Version: 0.719

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
rhabdomyolysis; myopathy; exercise intolerance; gout; haemolysis

Publications

History Filter Activity

2 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pfkm has been classified as Red List (Low Evidence).

2 Nov 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PFKM were changed from Glycogen storage disease 7 to Glycogen storage disease VII (MIM#232800)

2 Nov 2022, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: PFKM were set to

2 Nov 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: pfkm has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PFKM was added gene: PFKM was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PFKM were set to Glycogen storage disease 7