Genomics England
GMS Panels
Panels
Genes and Entities

CFL2

cofilin 2
OMIM: 601443
PanelMode of inheritanceDetails
2 panels
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 7, autosomal recessive, OMIM:610687
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 7, autosomal recessive, OMIM:610687, Nemaline myopathy 7, MONDO:0012538