Arthrogryposis
Gene: AGRNCopied from review by Rhiannon Mellis (GOSH) on the Fetal anomalies panel, 30 Sep 2020:
Geremek et al. 2019 (PMID: 31730230): First case report associating AGRN with lethal fetal phenotype (FADS) (including contractures of fingers and all four limbs) - unlike previous reported postnatal cases, the fetus had null variants on both alleles (a frameshift in trans with a 148kb deletion), which the authors suggest as a possible explanation for the severe phenotype.Created: 21 Jan 2021, 1:28 p.m. | Last Modified: 21 Jan 2021, 1:28 p.m.
Panel Version: 3.51
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Fetal akinesia deformation sequence
Publications
Not congenital-no arthrogryposisCreated: 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
Phenotypes for gene: AGRN were changed from Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120 to Fetal akinesia deformation sequence (FADS)
Publications for gene: AGRN were set to
Phenotypes for gene: AGRN were changed from Myasthenia, limb-girdle, familial, 254300 to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120
Mode of inheritance for gene: AGRN was changed from to BIALLELIC, autosomal or pseudoautosomal
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.
This gene has been classified as Red List (Low Evidence).
AGRN was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen
AGRN was added to Arthrogryposispanel. Sources: Expert list
AGRN was created by ellenmcdonagh