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  3. GYG2
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Ketotic hypoglycaemia

Gene: GYG2

Red List (low evidence)
GYG2 (glycogenin 2)
EnsemblGeneIds (GRCh38): ENSG00000056998
EnsemblGeneIds (GRCh37): ENSG00000056998
OMIM: 300198, Gene2Phenotype
GYG2 is in 1 panel

2 reviews

Alexander Broomfield (Central Manchester Foundation Trust)

I don't know

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

Panel version: 0

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Unable to find evidence for this gene - should remain red. The variant on OMIM reported in PMID: 24100632 is tagged with "unknown significance".
Created: 8 Jun 2016, 12:33 p.m.
Created: 8 Jun 2016, 12:25 p.m.

Panel version: 0.147

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • UKGTN
Phenotypes
  • Glycogen Storage Disease
OMIM
300198
Clinvar variants
Variants in GYG2
Penetrance
Complete
Publications
  • PMID: 25751106 - investigated patients with a GYG2 gene deletion and conclude that GN2 (encoded by GYG2) is not required for liver glycogen synthesis and glucagon-stimulated glucose release. PMID: 24100632 - candidate variants in the GYG2 gene found in male siblings with Leigh syndrome showing ketoemia, with some functional evidence.
Panels with this gene

History Filter Activity

8 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).

8 Jun 2016, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GYG2 was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females

8 Jun 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for GYG2 were set to PMID: 25751106 - investigated patients with a GYG2 gene deletion and conclude that GN2 (encoded by GYG2) is not required for liver glycogen synthesis and glucagon-stimulated glucose release. PMID: 24100632 - candidate variants in the GYG2 gene found in male siblings with Leigh syndrome showing ketoemia, with some functional evidence.

8 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).

19 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GYG2 was added to Ketotic hypoglycaemiapanel. Sources: UKGTN