Request for new term [TOR1AIP1-related nuclear envelopathy]

[clauseMDM]

Label

TOR1AIP1-related nuclear envelopathy

Synonyms

No response

Synonym type

broad

Definition

TOR1AIP1-related nuclear envelopathy (PMID: 37108075) is a term that encompasses the spectrum of clinical phenotypes resulting from loss of function of the TOR1AIP1 gene, including TOR1AIP1-related myopathy and TOR1AIP1-related multisystem disorder. Variability in the specific clinical features resulting from variants disrupting the function the TOR1AIP1 gene is thought to depend on the differential effects of variants on TOR1AIP1 transcript isoforms, for which there is evidence for tissue-specific expression and function.

Parent term

MONDO_0003847 hereditary disease

Children term(s)

TOR1AIP1-related myopathy (request complete), TOR1AIP1-related multisystem disorder (request in progress)

ORCID Identifier

0000-0002-2078-7280

Website URL

https://clinicalgenome.org/affiliation/40060/, https://clinicalgenome.org/affiliation/40151/

Additional comments

This term request is the product of discussion by the ClinGen Syndromic Disorders GCEP, Muscular Dystrophies and Myopathies GCEP, and a representative of the Curated Disease Entity Working Group.