Genes in panel

Likely inborn error of metabolism - targeted testing not possible


Green List (high evidence)

ALDOA (aldolase, fructose-bisphosphate A)
EnsemblGeneIds (GRCh38): ENSG00000149925
EnsemblGeneIds (GRCh37): ENSG00000149925
OMIM: 103850, Gene2Phenotype
ALDOA is in 14 panels

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Rhabdomyolysis and metabolic muscle disorders


History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to ALDOA. Source London North GLH was added to ALDOA.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ALDOA was added gene: ALDOA was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDOA were set to 27604308 Phenotypes for gene: ALDOA were set to Glycogen Storage Disease; Aldolase A deficiency (Glycogen storage disorders); Glycogen storage disease XII, 611881