ALDOA

aldolase, fructose-bisphosphate A
OMIM: 103850
PanelMode of inheritanceDetails
7 panels
R-numbers: R419
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease XII, OMIM:611881
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLYCOGEN STORAGE DISEASE XII 611881
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLYCOGEN STORAGE DISEASE XII
R-numbers: R274
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease XII 611881
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, Aldolase A deficiency (Glycogen storage disorders), Glycogen storage disease XII, 611881
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease due to aldolase A deficiency, 611881 Aldolase A deficiency, Enzyme Disorder, Aldolase A deficiency, Glycogen storage disease XII, 611881, 611881 Glycogen storage disease XII, Glycogen storage disease
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 XII, OMIM:611881