Rhabdomyolysis and metabolic muscle disorders
Gene: ALDOA

ALDOA (aldolase, fructose-bisphosphate A)
EnsemblGeneIds (GRCh38): ENSG00000149925
EnsemblGeneIds (GRCh37): ENSG00000149925
OMIM: 103850, Gene2Phenotype
ALDOA is in 12 panels

2 reviews

Richard Kirk (Sheffield Diagnostic Genetics Service, Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease XII

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Jul 2017, 3:05 p.m.

Panel version: 1.4

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 5 variants reported.
Created: 1 Dec 2016, 4:40 p.m.

Created: 1 Dec 2016, 4:40 p.m.

Panel version: 0.57

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN

Phenotypes

Glycogen storage disease XII, OMIM:611881

OMIM

103850

Clinvar variants

Variants in ALDOA

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

12 Jan 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ALDOA were changed from Glycogen storage disease XII 611881 to Glycogen storage disease XII, OMIM:611881

18 Jul 2017, Gel status: 4