Hypertrophic cardiomyopathy - teen and adult

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 16 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

VLCAD deficiency 1A&B (232400)
Created: 25 Mar 2019, 4:30 p.m.
Assoc with AR glycogen storage disease - cardiomyopathy can be a key feature and age of onset is broad range - can be undefined myopathy: https://omim.org/clinicalSynopsis/232400.
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

I don't know

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to AGL. Mode of inheritance for gene AGL was changed from to BIALLELIC, autosomal or pseudoautosomal

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

AGL was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list