Congenital myopathy
Gene: CFL2EnsemblGeneIds (GRCh38): ENSG00000165410
EnsemblGeneIds (GRCh37): ENSG00000165410
OMIM: 601443, Gene2Phenotype
CFL2 is in 4 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)
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.
Helen Brittain (Genomics England Curator)
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, OMIM:610687
- OMIM
- 601443
- Clinvar variants
- Variants in CFL2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: CFL2 were set to 22560515; 17160903; 24610938
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CFL2 were changed from Nemaline myopathy 7, autosomal recessive, 610687; Nemaline Myopathy, Recessive to Nemaline myopathy 7, autosomal recessive, OMIM:610687
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CFL2.
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)
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.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for CFL2 were set to 22560515; 17160903; 24610938
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Eik Haraldsdottir (Genomics England)CFL2 was added to Congenital myopathypanel. Sources: Expert
Added New Source
GEL ()CFL2 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()CFL2 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()CFL2 was added to Congenital myopathypanel. Sources: UKGTN