Genomics England

ALDOA

aldolase, fructose-bisphosphate A

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Acute rhabdomyolysis 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 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GLYCOGEN STORAGE DISEASE XII 611881
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GLYCOGEN STORAGE DISEASE XII
Green in Glycogen storage disease R-numbers: R274 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease XII 611881
Green in Likely inborn error of metabolism - targeted testing not possible 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 4.0	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
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glycogen storage disease XII, OMIM:611881