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Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: GYG1

Green List (high evidence)
GYG1 (glycogenin 1)
EnsemblGeneIds (GRCh38): ENSG00000163754
EnsemblGeneIds (GRCh37): ENSG00000163754
OMIM: 603942, Gene2Phenotype
GYG1 is in 7 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Limb-girdle muscle weakness can be a feature of this myopathy.
Sources: Literature
Created: 20 Sep 2023, 11:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polyglucosan body myopathy 2, MIM# 616199; Glycogen storage disease XV , MIM# 613507

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 20 Sep 2023, 11:14 p.m.

Panel version: 1.25

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Multiple individuals reported with both conditions, affecting primarily skeletal muscle.
Created: 10 May 2022, 3:01 a.m. | Last Modified: 10 May 2022, 3:01 a.m.
Panel Version: 0.14010

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Polyglucosan body myopathy 2, MIM# 616199; Glycogen storage disease XV , MIM# 613507

Publications

Created: 10 May 2022, 3:01 a.m.
Last Modified: 10 May 2022, 3:01 a.m.
Panel version: Imported from Mendeliome panel version 0.14010

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Polyglucosan body myopathy 2, MIM# 616199
  • Glycogen storage disease XV , MIM# 613507
OMIM
603942
Clinvar variants
Variants in GYG1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gyg1 has been classified as Green List (High Evidence).

20 Sep 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gyg1 has been classified as Green List (High Evidence).

20 Sep 2023, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GYG1 was added gene: GYG1 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Literature Mode of inheritance for gene: GYG1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GYG1 were set to 29422440; 32477874; 32528171 Phenotypes for gene: GYG1 were set to Polyglucosan body myopathy 2, MIM# 616199; Glycogen storage disease XV , MIM# 613507 Review for gene: GYG1 was set to GREEN gene: GYG1 was marked as current diagnostic