Glycogen storage disease

Gene: ALDOB

Green List (high evidence)

ALDOB (aldolase, fructose-bisphosphate B)
EnsemblGeneIds (GRCh38): ENSG00000136872
EnsemblGeneIds (GRCh37): ENSG00000136872
OMIM: 612724, Gene2Phenotype
ALDOB is in 11 panels

1 review

Carol Hardy (West Midlands Regional Genetics Laboratory)

Green List (high evidence)

Not currently in our GSD panel but is a gene we have discussed adding
Created: 13 Feb 2019, 1:09 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fructose intolerance, hereditary 229600

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
Phenotypes
  • Fructose intolerance, hereditary 229600
OMIM
612724
Clinvar variants
Variants in ALDOB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: ALDOB was added gene: ALDOB was added to Glycogen storage disease. Sources: Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDOB were set to 26677512 Phenotypes for gene: ALDOB were set to Fructose intolerance, hereditary 229600