Congenital myaesthenic syndrome

Gene: AGRN

Green List (high evidence)

AGRN (agrin)
EnsemblGeneIds (GRCh38): ENSG00000188157
EnsemblGeneIds (GRCh37): ENSG00000188157
OMIM: 103320, Gene2Phenotype
AGRN is in 4 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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.

Michael Oldridge (NHS)

Green List (high evidence)

see PanelApp (further cases described in publication given) PMID: 24951643
Created: 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

Rebecca Foulger (Genomics England curator)

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.

David Beeson (Oxford University)

Green List (high evidence)

Functional studies covered by the Oxford Congenital Myasthenia Service
Created: 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Congenital myasthenic syndrome
  • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120
OMIM
103320
Clinvar variants
Variants in AGRN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: AGRN were set to 24951643

29 Apr 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene AGRN were changed from 22205389; 24951643; 19631309 to 24951643

29 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to AGRN.

29 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to AGRN. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

7 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

31 Jan 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for AGRN was changed to BIALLELIC, autosomal or pseudoautosomal

31 Jan 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for AGRN was changed to BIALLELIC, autosomal or pseudoautosomal

31 Jan 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for AGRN were set to Congenital myasthenic syndrome; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120

31 Jan 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for AGRN were set to 22205389; 24951643; 19631309

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

AGRN was added to Congenital myaestheniapanel. Sources: Radboud University Medical Center, Nijmegen