Comment on publications: PMID: 33060286 - additional patient presenting at birth with mild arthrogryposis including hip dislocation, clenched hands, adducted thumbs.
Created: 3 Sep 2021, 1:36 p.m. | Last Modified: 3 Sep 2021, 1:36 p.m.
Panel Version: 3.119
Comment on list classification: Upgraded from Red to Amber, but should be promoted to Green at the next GMS panel update (added 'for-review' tag). PMID: 29858533 reports on 3 unrelated individuals who presented at birth with arthrogryposis. This was evident prior to other FLNC-related features such as muscle weakness and cardiomyopathy, and so it is plausible that these cases may be tested in the context of this clinical indication.
Created: 4 Jan 2021, 4:29 p.m. | Last Modified: 4 Jan 2021, 4:29 p.m.
Panel Version: 3.41
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.
Publications for gene: FLNC were set to 29858533
Tag for-review tag was added to gene: FLNC.
Phenotypes for gene: FLNC were changed from Myopathy, myofibrillar, 5, 609524 to Cardiomyopathy, familial hypertrophic, 26, OMIM:617047; Cardiomyopathy, familial restrictive 5, OMIM:617047; Hypertrophic cardiomyopathy 26, MONDO:0014883; Myopathy, distal, 4, OMIM:614065; Distal myopathy with posterior leg and anterior hand involvement, MONDO:0013550; Myopathy, myofibrillar, 5, OMIM:609524; Myopathy, myofibrillar, 5, MONDO:0012289
Gene: flnc has been classified as Amber List (Moderate Evidence).
Publications for gene: FLNC were set to
Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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 added to Arthrogryposispanel. Sources: Expert list
FLNC was created by ellenmcdonagh