PMID: 29858533 - 4 individuals with both restrictive cardiomyopathy and congenital myopathy. 3/4 had arthrogryposis.
Created: 11 Jul 2020, 7:59 a.m. | Last Modified: 11 Jul 2020, 7:59 a.m.
Panel Version: 3.11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Cardiomyopathy, familial restrictive 5 617047; Myopathy, distal, 4 614065; Myopathy, myofibrillar, 5 609524
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: No known association with arthrogryposis
Created: 4 Jan 2017, 4:45 p.m.
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).
FLNC was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen
FLNC was created by ellenmcdonagh
FLNC was added to Arthrogryposispanel. Sources: Expert list