Ketotic hypoglycaemia

Gene: GAA

Red List (low evidence)

GAA (glucosidase alpha, acid)
EnsemblGeneIds (GRCh38): ENSG00000171298
EnsemblGeneIds (GRCh37): ENSG00000171298
OMIM: 606800, Gene2Phenotype
GAA is in 19 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted to red due to expert review.
Created: 7 Jun 2016, 2:33 p.m.

Alexander Broomfield (Central Manchester Foundation Trust)

Red List (low evidence)

Cardiomyopathy and skeltal myopahty no evidence for hypoglycaemia
Created: 20 Oct 2015, 5:43 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • Glycogen storage disease II, 232300
  • Glycogen Storage Disease, Type II
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
  • Glycogen Storage Disease II
OMIM
606800
Clinvar variants
Variants in GAA
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

7 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

6 Apr 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

19 Oct 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

GAA was added to Ketotic hypoglycaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,UKGTN