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  2. Ketotic hypoglycaemia
  3. ALDOB
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Ketotic hypoglycaemia

Gene: ALDOB

Green List (high evidence)
ALDOB (aldolase, fructose-bisphosphate B)
EnsemblGeneIds (GRCh38): ENSG00000136872
EnsemblGeneIds (GRCh37): ENSG00000136872
OMIM: 612724, Gene2Phenotype
ALDOB is in 10 panels

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:37 a.m.

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added by reviewer and rated green. It is both a DD and IF gene in G2P for hereditary fructose intolerance, and multiple examples of variants reported in OMIM with an associated with fructose intolerance.
Created: 6 Apr 2016, 10:27 a.m.
Created: 6 Apr 2016, 10:27 a.m.

Panel version: 0.74

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation
  • hereditary fructose intolerance
OMIM
612724
Clinvar variants
Variants in ALDOB
Penetrance
Complete
Publications
  • Ali M, Cox TM 1995 and Cross, NCP Cox TM.
Panels with this gene

History Filter Activity

6 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Apr 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ALDOB were set to acidosis with ketototic hypoglycaemia often hepatomegaly in acute presentation; hereditary fructose intolerance

6 Apr 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ALDOB was changed to BIALLELIC, autosomal or pseudoautosomal

6 Apr 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

19 Oct 2015, Gel status: 0

Added New Source

Alexander Broomfield (Central Manchester Foundation Trust)

ALDOB was added to Ketotic hypoglycaemiapanel. Sources: Literature