Muscular dystrophy and myopathy_Paediatric

Gene: CFL2

Green List (high evidence)

CFL2 (cofilin 2)
EnsemblGeneIds (GRCh38): ENSG00000165410
EnsemblGeneIds (GRCh37): ENSG00000165410
OMIM: 601443, Gene2Phenotype
CFL2 is in 7 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

PMID: 17160903; 22560515
Age of onset - from birth to early childhood (typically around the ages of expected childhood milestones)
- 4 individuals from 2 unrelated consangineous families with clinical phenotypes consistent with congenital myopathy
Sources: Other
Created: 8 May 2023, 1:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 7 (MONDO:0012538; MIM#610687)

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nemaline myopathy-7 is an autosomal recessive congenital myopathy characterized by very early onset of hypotonia and delayed motor development. Affected individuals have difficulty walking and running due to proximal muscle weakness. The disorder is slowly progressive, and independent ambulation may be lost. Muscle biopsy shows nemaline rods and may later show minicores, abnormal protein aggregates, and dystrophic changes. At least 10 families reported, mouse and Drosophila models.

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, 10:26 p.m. | Last Modified: 3 Sep 2020, 10:26 p.m.
Panel Version: 0.263

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 7, autosomal recessive, MIM# 610687

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 7 (MONDO:0012538
  • MIM#610687)
OMIM
601443
Clinvar variants
Variants in CFL2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 May 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cfl2 has been classified as Green List (High Evidence).

9 May 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cfl2 has been classified as Green List (High Evidence).

9 May 2023, Gel status: 0

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: CFL2 were set to PMID: 17160903; 22560515

8 May 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sangavi Sivagnanasundram (Melbourne Health)

gene: CFL2 was added gene: CFL2 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: CFL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFL2 were set to PMID: 17160903; 22560515 Phenotypes for gene: CFL2 were set to Nemaline myopathy 7 (MONDO:0012538; MIM#610687) Review for gene: CFL2 was set to GREEN