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Arthrogryposis

Gene: AGRN

Red List (low evidence)

AGRN (agrin)
EnsemblGeneIds (GRCh38): ENSG00000188157
EnsemblGeneIds (GRCh37): ENSG00000188157
OMIM: 103320, Gene2Phenotype
AGRN is in 5 panels

1 review

Alice Gardham (Genomics England)

Red List (low evidence)

Not congenital-no arthrogryposis
Created: 4 Jan 2017, 1:39 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Myasthenia, limb-girdle, familial, 254300
OMIM
103320
Clinvar variants
Variants in AGRN
Penetrance
Complete
Panels with this gene

History Filter Activity

16 Jan 2017, Gel status: 1

panel promoted to version 2

Ellen McDonagh (Genomics England Curator)

16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.

4 Jan 2017, Gel status: 1

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Red List (Low Evidence).

21 Dec 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

AGRN was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

AGRN was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

AGRN was created by ellenmcdonagh