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Arthrogryposis

Gene: FLNC

Amber List (moderate evidence)

FLNC (filamin C)
EnsemblGeneIds (GRCh38): ENSG00000128591
EnsemblGeneIds (GRCh37): ENSG00000128591
OMIM: 102565, Gene2Phenotype
FLNC is in 12 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

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

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Phenotypes
Cardiomyopathy, familial restrictive 5 617047; Myopathy, distal, 4 614065; Myopathy, myofibrillar, 5 609524

Publications

Variants in this GENE are reported as part of current diagnostic practice

Alice Gardham (Genomics England)

Comment when marking as ready: No known association with arthrogryposis
Created: 4 Jan 2017, 4:45 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • 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
Tags
for-review
OMIM
102565
Clinvar variants
Variants in FLNC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Sep 2021, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: FLNC were set to 29858533

21 Jan 2021, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: FLNC.

4 Jan 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

4 Jan 2021, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: flnc has been classified as Amber List (Moderate Evidence).

4 Jan 2021, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: FLNC were set to

4 Jan 2021, Gel status: 1

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: FLNC was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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)

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

21 Dec 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

FLNC was added to Arthrogryposispanel. Sources: Expert list

21 Dec 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

FLNC was created by ellenmcdonagh