Ketotic hypoglycaemia

Gene: AGL

Green List (high evidence)

AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase)
EnsemblGeneIds (GRCh38): ENSG00000162688
EnsemblGeneIds (GRCh37): ENSG00000162688
OMIM: 610860, Gene2Phenotype
AGL is in 16 panels

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene rated green by expert reviewer for inclusion on this panel. It is a confirmed DD gene for glycogen storage disease Type III, and multiple cases for different variants reported in OMIM.
Created: 7 Jun 2016, 2:20 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • myopathy, cardiomyopathy and neuropathy possible but mile hepatomegaly and fasting intolerance
  • Glycogen storage disease IIIa, 232400
  • Glycogen storage disease IIIb, 232400
  • Glycogen Storage Disease Type III
  • Glycogen Storage Disorders- Liver
  • Glycogen Storage Disorders- Muscle
  • Glycogen Storage Disease
OMIM
610860
Clinvar variants
Variants in AGL
Penetrance
Complete
Panels with this gene

History Filter Activity

7 Jun 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

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: 4

Approved Gene

Ellen McDonagh (Genomics England Curator)

This proposed gene was validated and added to this panel

19 Oct 2015, Gel status: 0

Added New Source

Alexander Broomfield (Central Manchester Foundation Trust)

AGL was added to Ketotic hypoglycaemiapanel. Sources: Literature