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  3. ALDOA
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Glycogen Storage Diseases

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Haemolytic anaemia, myopathy, rhabdomyolysis.
Created: 23 Feb 2021, 10:47 a.m. | Last Modified: 23 Feb 2021, 10:47 a.m.
Panel Version: 0.31

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease XII , MIM#611881

Publications

Created: 23 Feb 2021, 10:47 a.m.
Last Modified: 23 Feb 2021, 10:47 a.m.
Panel version: 0.31

Details

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

History Filter Activity

23 Feb 2021, 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).

23 Feb 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Feb 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALDOA were set to

23 Feb 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ALDOA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALDOA was added gene: ALDOA was added to Glycogen Storage Diseases_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ALDOA was set to Unknown