Orphanet: nebulin

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NEB - nebulin

Synonym(s) : NEB177D, nemaline myopathy type 2
Previous symbols and names : NEM2
Type : gene with protein product
Chromosomal location : 2q23.3
OMIM: 161650
HGNC: 7720
UniProtKB: P20929
Genatlas: NEB
GenCC: NEB
Ensembl: ENSG00000183091
IUPHAR-DB: -
Reactome: P20929
LOVD: NEB

Diseases list

Disease-causing germline mutation(s) in Childhood-onset nemaline myopathy ORPHA:171439
Disease-causing germline mutation(s) in Distal nebulin myopathy ORPHA:399103
Disease-causing germline mutation(s) in Intermediate nemaline myopathy ORPHA:171433
Disease-causing germline mutation(s) in Lethal multiple pterygium syndrome ORPHA:33108
Disease-causing germline mutation(s) in Severe congenital nemaline myopathy ORPHA:171430
Disease-causing germline mutation(s) in Typical nemaline myopathy ORPHA:171436

: Assessed

Additional information

Patient-centred resources for this gene

Diagnostic tests (83)

Research activities on this gene

Specialised Social Services

Eurordis directory

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