Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: GBE1Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 5:25 p.m. | Last Modified: 28 Nov 2019, 5:25 p.m.
Panel Version: 1.172
Glycongen storage diseaseCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glycogen storage disease IV, 232500
Publications
Phenotypes for gene: GBE1 were changed from Glycogen storage disease IV, 232500 to Glycogen storage disease IV, OMIM:232500
Gene: gbe1 has been classified as Red List (Low Evidence).
Gene: gbe1 has been classified as Red List (Low Evidence).
Source NHS GMS was added to GBE1.
Source Yorkshire and North East GLH was added to GBE1.
Mode of inheritance for gene GBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Glycogen storage disease IV, 232500 for gene: GBE1 Publications for gene GBE1 were changed from to 8613547
gene: GBE1 was added gene: GBE1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: GBE1 was set to