Ketotic hypoglycaemia

Gene: ALDOA

Green List (high evidence)

ALDOA (aldolase, fructose-bisphosphate A)
EnsemblGeneIds (GRCh38): ENSG00000149925
EnsemblGeneIds (GRCh37): ENSG00000149925
OMIM: 103850, Gene2Phenotype
ALDOA is in 13 panels

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

Green List (high evidence)

Mode of inheritance
Unknown

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Sourced from G2P and OMIM.
Created: 6 Apr 2016, 9:40 a.m.
Comment on list classification: Promoted from amber to green due to expert review, and it is a confirmed DD gene for glycogen storage disease XII.
Created: 6 Apr 2016, 9:39 a.m.

Details

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 Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ALDOA 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: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene ALDOA were set to Glycogen storage disease XII, 611881; Glycogen Storage Disease

19 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ALDOA was added to Ketotic hypoglycaemiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN