Muscular dystrophy and myopathy_Paediatric
Gene: CFL2
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: OtherCreated: 8 May 2023, 1:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 7 (MONDO:0012538; MIM#610687)
Publications
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
Gene: cfl2 has been classified as Green List (High Evidence).
Gene: cfl2 has been classified as Green List (High Evidence).
Publications for gene: CFL2 were set to PMID: 17160903; 22560515
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