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  3. ALDOA
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Rhabdomyolysis and Metabolic Myopathy

Gene: ALDOA

Green List (high evidence)
ALDOA (aldolase, fructose-bisphosphate A)
EnsemblGeneIds (GRCh38): ENSG00000149925
EnsemblGeneIds (GRCh37): ENSG00000149925
OMIM: 103850, Gene2Phenotype
ALDOA is in 8 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Haemolytic anaemia, myopathy, rhabdomyolysis.
Created: 23 Feb 2021, 10:49 a.m. | Last Modified: 23 Feb 2021, 10:49 a.m.
Panel Version: 0.6434

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease XII , MIM#611881

Publications

Created: 23 Feb 2021, 10:49 a.m.
Last Modified: 23 Feb 2021, 10:49 a.m.
Panel version: Imported from Mendeliome panel version 0.6434

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 25392908 - 1 family (3 siblings) with homozygous missense variant. Patients affected by severe rhabdomyolysis from 2 months of age, episodes triggered by fever.

PMID: 14615364 - 1 compound heterozygous (missense/PTC) patient who presented aged 3 years old with muscle weakness and anemia.

PMID: 8598869 - 1 patient with a homozygous missense variant. Presented at 4 years old with premature muscle fatigue and weakness (could not find variant in gnomAD)
Created: 10 Jun 2020, 6:29 a.m. | Last Modified: 10 Jun 2020, 6:29 a.m.
Panel Version: 0.138

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease XII 611881

Publications

Created: 10 Jun 2020, 6:29 a.m.
Last Modified: 10 Jun 2020, 6:29 a.m.
Panel version: Imported from Myopathy - paediatric onset panel version 0.138

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Haemolytic anaemia is the predominant feature of the condition, but rhabdomyolysis has been reported in at least 3 cases.
Sources: Expert list
Created: 12 Feb 2020, 2:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease XII MIM#611881

Publications

Created: 12 Feb 2020, 2:32 a.m.

Panel version: Imported from Myopathy Superpanel panel version 0.22

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease XII 611881
OMIM
103850
Clinvar variants
Variants in ALDOA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aldoa has been classified as Green List (High Evidence).

7 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALDOA were set to

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ALDOA was added gene: ALDOA was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDOA were set to Glycogen storage disease XII 611881