Limb girdle muscular dystrophy

Gene: AGL

Red List (low evidence)

AGL (amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase)
EnsemblGeneIds (GRCh38): ENSG00000162688
EnsemblGeneIds (GRCh37): ENSG00000162688
OMIM: 610860, Gene2Phenotype
AGL is in 15 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 5:30 p.m. | Last Modified: 28 Nov 2019, 5:30 p.m.
Panel Version: 1.181

Chiara Marini Bettolo (NUTH)

Red List (low evidence)

metabolic myopathy. Glycongen storage disease IIIa/b
Created: 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 IIIb; Glycogen storage disease IIIc

Publications

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glycogen storage disease IIIb, 232400; Glycogen storage disease IIIc, 232400

Publications

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: agl has been classified as Red List (Low Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to AGL.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to AGL.

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene AGL was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Glycogen storage disease IIIb, 232400; Glycogen storage disease IIIc, 232400 for gene: AGL Publications for gene AGL were changed from to 8755644; 8990006

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: AGL was added gene: AGL was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: AGL was set to