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Prepair 1000+

Gene: ALDOB

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

1 review

Melanie Marty (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association.

Clinical symptoms of HFI include gastrointestinal distress (nausea, vomiting, diarrhea, abdominal pain, anorexia), jaundice, bleeding tendency, renal tubular dysfunction and metabolic disturbances following dietary exposure to fructose, sucrose, or sorbitol. If large quantities of fructose are ingested, lethargy, seizures, and/or progressive coma may ensue. Persistent fructose exposure can result in chronic growth restriction, failure to thrive, renal and hepatic failure, and risk of death.

Symptoms appear in infancy at the time of weaning.
Created: 26 Nov 2024, 6:45 a.m. | Last Modified: 26 Nov 2024, 6:45 a.m.
Panel Version: 1.592

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Fructose intolerance, hereditary, MIM# 229600

Publications

Created: 26 Nov 2024, 6:45 a.m.
Last Modified: 26 Nov 2024, 6:45 a.m.
Panel version: 1.592

History Filter Activity

27 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ALDOB were changed from Fructose intolerance, 229600 (3) to Fructose intolerance, hereditary, MIM# 229600

27 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ALDOB were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Fructose intolerance, 229600 (3) for gene: ALDOB

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ALDOB was added gene: ALDOB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALDOB were set to Fructose intolerance, 229600 (3)