Congenital muscular dystrophy and 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
-
- Illumina TruGenome Clinical Sequencing Services
- London South GLH
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- UKGTN
- NHS GMS
- Expert
- 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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: CFL2 was added gene: CFL2 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert,NHS GMS,UKGTN,Expert Review Green,Radboud University Medical Center, Nijmegen,London South GLH,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFL2 were set to 22560515; 17160903; 24610938; 32160286 Phenotypes for gene: CFL2 were set to Nemaline myopathy 7, autosomal recessive, OMIM:610687 Penetrance for gene: CFL2 were set to Complete