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Prepair 1000+

Gene: AGRN

Green List (high evidence)

AGRN (agrin)
EnsemblGeneIds (GRCh38): ENSG00000188157
EnsemblGeneIds (GRCh37): ENSG00000188157
OMIM: 103320, Gene2Phenotype
AGRN is in 8 panels

1 review

Cassandra Muller (Victorian Clinical Genetics Services)

Green List (high evidence)

Severe condition, childhood onset. Reported in 3 independent families.
Treatment available: salbutamol, acetylcholine-esterase inhibitors.
Created: 7 Aug 2024, 6:14 a.m. | Last Modified: 7 Aug 2024, 6:14 a.m.
Panel Version: 1.82

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
OMIM
103320
Clinvar variants
Variants in AGRN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: agrn has been classified as Green List (High Evidence).

8 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: AGRN were set to

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: AGRN was added gene: AGRN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGRN were set to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)