PFKM

phosphofructokinase, muscle
OMIM: 610681
PanelMode of inheritanceDetails
8 panels
R-numbers: R419
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease VII, OMIM:232800
R-numbers: R83
Signed-off version 6.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease VII 232800
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease VII, OMIM:232800, Glycogen storage disease VII, MONDO:0009295
R-numbers: R274
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease VII 232800
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R98
Signed-off version 5.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease VII
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.33
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease VII, 232800
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
232800 Glycogen storage disease VII, Glycogen storage disease VII, 232800
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease VII 232800