Ketotic hypoglycaemia

Gene: GYG1

Red List (low evidence)

GYG1 (glycogenin 1)
EnsemblGeneIds (GRCh38): ENSG00000163754
EnsemblGeneIds (GRCh37): ENSG00000163754
OMIM: 603942, Gene2Phenotype
GYG1 is in 10 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Demoted from amber to red due to expert review. In OMIM it is flagged with a question mark for glycogen storage disease XV due to only 1 patient being reported.
Created: 6 Apr 2016, 9:57 a.m.

Alexander Broomfield (Central Manchester Foundation Trust)

Red List (low evidence)

Not recorded in having hypoglycaemia just muscle and cardaic problems
Created: 20 Oct 2015, 5:55 p.m.

History Filter Activity

6 Apr 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: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for GYG1 was changed to BIALLELIC, autosomal or pseudoautosomal

6 Apr 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: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

GYG1 was added to Ketotic hypoglycaemiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN