Details of Disease

General Information of Disease (ID: DISIWD5A)

Disease Name Nemaline myopathy 7
Synonyms nemaline myopathy 7; NEM7; nemaline myopathy 7, autosomal recessive; nemaline myopathy type 7; CFL2 nemaline myopathy; nemaline myopathy caused by mutation in CFL2
Definition Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene.
Disease Hierarchy
DISY1645: Typical nemaline myopathy
DIS5IYLY: Nemaline myopathy
DISIWD5A: Nemaline myopathy 7
Disease Identifiers
MONDO ID
MONDO_0012538
MESH ID
C565198
UMLS CUI
C1853154
OMIM ID
610687
MedGen ID
343979

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CFL2 OTE2W0DH Definitive Autosomal recessive [1]
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References

1 Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.