Congenital myaesthenic syndrome
Gene: AGRN
Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 30 Apr 2019, 9:30 a.m.
see PanelApp (further cases described in publication given) PMID: 24951643Created: 29 Apr 2019, 4:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120
Publications
Comment on list classification: Updated rating from Red to Green based on Green review by an expert. 2 unrelated cases plus a mouse model.Created: 7 Feb 2017, 3:22 p.m.
Gautam et al., 1996/PMID:8653788 (amongst others) provide a mouse model where knockout mice deficient for agrin showed grossly defective neuromuscular differentiation. See also PMID:21890498.Created: 31 Jan 2017, 4:20 p.m.
In a 39-year-old man with congenital myasthenic syndrome-8 (OMIM:615120), Maselli et al. (2012, PMID:22205389) identified compound heterozygosity for 2 mutations in the AGRN gene: V1727F and Q353X.Created: 31 Jan 2017, 4:16 p.m.
In a sister and brother with congenital myasthenic syndrome-8 (OMIM:615120), Huze et al. (2009, PMID:19631309) identified a homozygous 5125G-C transversion in AGRN, resulting in a G1709R substitution.Created: 31 Jan 2017, 4:15 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.Created: 31 Jan 2017, 4:14 p.m.
Functional studies covered by the Oxford Congenital Myasthenia ServiceCreated: 26 Jan 2017, 12:03 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: AGRN were changed from Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120
Publications for gene: AGRN were set to 24951643
Publications for gene AGRN were changed from 22205389; 24951643; 19631309 to 24951643
Source NHS GMS was added to AGRN.
Source Wessex and West Midlands GLH was added to AGRN. Rating Changed from Green List (high evidence) to Green List (high evidence)
22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Mode of inheritance for AGRN was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for AGRN was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for AGRN were set to Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120
Publications for AGRN were set to 22205389; 24951643; 19631309
AGRN was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen