Ketotic hypoglycaemia
Gene: ALDOA
ALDOA (aldolase, fructose-bisphosphate A)
EnsemblGeneIds (GRCh38): ENSG00000149925
EnsemblGeneIds (GRCh37): ENSG00000149925
OMIM: 103850, Gene2Phenotype
ALDOA is in 12 panels
EnsemblGeneIds (GRCh38): ENSG00000149925
EnsemblGeneIds (GRCh37): ENSG00000149925
OMIM: 103850, Gene2Phenotype
ALDOA is in 12 panels
2 reviews
Alexander Broomfield (Central Manchester Foundation Trust)
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
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Glycogen storage disease XII, 611881
- Glycogen Storage Disease
- OMIM
- 103850
- Clinvar variants
- Variants in ALDOA
- Penetrance
- Complete
- Panels with this gene
-
- Intellectual disability
- Undiagnosed metabolic disorders
- Cytopenias and congenital anaemias
- Fetal anomalies
- Rhabdomyolysis and metabolic muscle disorders
- Rare anaemia
- Ketotic hypoglycaemia
- Glycogen storage disease
- DDG2P
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Childhood onset dystonia, chorea or related movement disorder
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