Congenital myopathy

Gene: CFL2

Green List (high evidence)

CFL2 (cofilin 2)
EnsemblGeneIds (GRCh38): ENSG00000165410
EnsemblGeneIds (GRCh37): ENSG00000165410
OMIM: 601443, Gene2Phenotype
CFL2 is in 6 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

PMID: 32160286 (2020) - Knock-in mouse model with a homozygous p.A35T variant in the Cfl2 gene, recapitulated human myopathic phenotypes with complementary histopathological and molecular findings, which mimicked previously described, constitutive Cfl2-knockout mice models.
Created: 3 Sep 2020, noon | Last Modified: 3 Sep 2020, noon
Panel Version: 2.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 7, autosomal recessive, 610687; Nemaline Myopathy, Recessive

Publications

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 7, autosomal recessive, 610687; Nemaline Myopathy, Recessive

Publications

Helen Brittain (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Phenotype fits. Three reported families.
Created: 2 Feb 2017, 11:18 a.m.
Comment on list classification: Further case found; severe disease, early onset therefore three unrelated families so evidence considered sufficient.
Created: 2 Feb 2017, 11:15 a.m.
I can find evidence of two reported (unrelated) families with mutations and the phenotype. Each of them have missense mutations in CFL2. There is supporting evidence in terms of the features on the muscle biopsy however, I do not believe these are specific for the diagnosis. Therefore, I am rating this gene as red (current evidence is insufficient). I note however, that CFL2 appears on the South East London Congenital Myopathy 22 gene diagnostic panel and therefore a second review would be welcome.
Created: 24 Jan 2017, 1:46 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
NEMALINE MYOPATHY 7

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Nemaline myopathy 7, autosomal recessive, 610687
  • Nemaline Myopathy, Recessive
OMIM
601443
Clinvar variants
Variants in CFL2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CFL2.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to CFL2. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

2 Feb 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for CFL2 were set to 22560515; 17160903; 24610938

2 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

CFL2 was added to Congenital myopathypanel. Sources: Expert

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

CFL2 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CFL2 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CFL2 was added to Congenital myopathypanel. Sources: UKGTN