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  2. Glycogen Storage Diseases
  3. ALDOB
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Glycogen Storage Diseases

Gene: ALDOB

Red List (low evidence)
ALDOB (aldolase, fructose-bisphosphate B)
EnsemblGeneIds (GRCh38): ENSG00000136872
EnsemblGeneIds (GRCh37): ENSG00000136872
OMIM: 612724, Gene2Phenotype
ALDOB is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Not a glycogen storage disease.
Created: 23 Feb 2021, 10:52 a.m. | Last Modified: 23 Feb 2021, 10:52 a.m.
Panel Version: 0.34

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fructose intolerance, hereditary, MIM# 229600

Created: 23 Feb 2021, 10:52 a.m.
Last Modified: 23 Feb 2021, 10:52 a.m.
Panel version: 0.34

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Fructose intolerance, hereditary, MIM# 229600
OMIM
612724
Clinvar variants
Variants in ALDOB
Penetrance
None
Panels with this gene

History Filter Activity

23 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aldob has been classified as Red List (Low Evidence).

23 Feb 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALDOB were changed from to Fructose intolerance, hereditary, MIM# 229600

23 Feb 2021, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

23 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aldob has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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