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Newborns main panel

Gene: AGRN

Green List (high evidence)
AGRN (agrin)
EnsemblGeneIds (GRCh38): ENSG00000188157
EnsemblGeneIds (GRCh37): ENSG00000188157
OMIM: 103320, Gene2Phenotype
AGRN is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Newborns Variant Discussion (NVD) recommended.

Additional Information: Oxford Congenital Myasthenia Service have requested to be involved at the variant review stage. They will be able to assist with variant interpretation and initial management plans.
Created: 25 Sep 2024, 1:45 p.m. | Last Modified: 25 Sep 2024, 1:51 p.m.
Panel Version: 0.469
Created: 25 Sep 2024, 1:45 p.m.
Last Modified: 25 Sep 2024, 1:51 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 32221959 - 1 case and 12 from literature
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects
Tags
special_consideration
OMIM
103320
Clinvar variants
Variants in AGRN
Penetrance
None
Panels with this gene

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: AGRN.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects for gene: AGRN

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to AGRN. Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects for gene: AGRN Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to AGRN. Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects for gene: AGRN Rating Changed from No List (delete) to Amber List (moderate evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: AGRN was added gene: AGRN was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal