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Red cell disorders

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 are key features.
Created: 5 Sep 2021, 8:26 a.m. | Last Modified: 5 Sep 2021, 8:26 a.m.
Panel Version: 0.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease XII , MIM#611881

Publications

Created: 5 Sep 2021, 8:26 a.m.
Last Modified: 5 Sep 2021, 8:26 a.m.
Panel version: 0.33

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Glycogen storage disease XII , MIM#611881
OMIM
103850
Clinvar variants
Variants in ALDOA
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Sep 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).

5 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALDOA were changed from Enzyme Disorder; Glycogen storage disease; Aldolase A deficiency; 611881 Aldolase A deficiency; 611881 Glycogen storage disease XII; Glycogen storage disease XII, 611881; Glycogen storage disease due to aldolase A deficiency to Glycogen storage disease XII , MIM#611881

5 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALDOA were set to 8598869; 7331996

15 Oct 2020, Gel status: 3

Set Phenotypes, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Enzyme Disorder; 611881 Aldolase A deficiency; Aldolase A deficiency; Glycogen storage disease; 611881 Glycogen storage disease XII; Glycogen storage disease XII, 611881; Glycogen storage disease due to aldolase A deficiency for gene: ALDOA Publications for gene ALDOA were updated from 7331996; 8598869 to 8598869; 7331996

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALDOA was added gene: ALDOA was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: ALDOA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDOA were set to 7331996; 8598869 Phenotypes for gene: ALDOA were set to Glycogen storage disease due to aldolase A deficiency; Enzyme Disorder; Glycogen storage disease; 611881 Glycogen storage disease XII; Aldolase A deficiency; 611881 Aldolase A deficiency; Glycogen storage disease XII, 611881