Request for new term [TOR1AIP1-related myopathy]

[clauseMDM]

Label

TOR1AIP1-related myopathy

Synonyms

MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y, MIM#617072 Muscular dystrophy autosomal recessive with rigid spine and distal joint contractures, ORPHA:424261 TOR1AIP1-related limb-girdle muscular dystrophy

Synonym type

narrow

Definition

A muscle disease in which the cause of the disease is pathogenic variation in the TOR1AIP1 gene (PMID:33405017, PMID:32873274, PMID:27342937, PMID:24856141, PMID:34164833, PMID:33215087). May include fatigable muscle weakness resulting from impaired transmission at the neuromuscular synapse.

Parent term

MONDO:0005336 myopathy

Children term(s)

MONDO:0014900 autosomal recessive limb-girdle muscular dystrophy type 2Y

ORCID Identifier

https://orcid.org/0000-0002-2078-7280

Website URL

https://clinicalgenome.org/affiliation/40151/

Additional comments

This is the preferred term defined by the ClinGen Muscular Dystrophies and Myopathies Gene Curation Expert Panel. This term encompasses autosomal recessive limb-girdle muscular dystrophy type 2Y (MONDO:0014900) / Muscular dystrophy autosomal recessive with rigid spine and distal joint contractures (MIM#617072) / TOR1AIP1-related limb-girdle muscular dystrophy (ORPHA:424261), but the phenotypic spectrum associated with variation is this gene is broader than limb girdle muscular dystrophy; hence the request for a new term. This term also encompasses TOR1AIP1-related congenital myasthenic syndrome, which would be another appropriate child term.