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Inclusion of the gene CTR9 #234

Closed OrphanetSwitzerland closed 2 weeks ago

OrphanetSwitzerland commented 3 months ago

Hello,

A clinician used the code ORPHA:180772 (Rare disease with autism) for a patient with a mutation in the gene CTR9. The gene is not yet registered in Orphanet.

Would it make sense to create the gene and link it to the entity “Non-specific syndromic intellectual disability”?

Reference: PMID: 35499524 (Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder).

Thank you

Mickael-Orphanet commented 2 weeks ago

Dear @OrphanetSwitzerland ,

Orphanet medical and scientific committee have decided that the gene CTR9 should be linked to Non-specific intellectual disability ORPHA:528084.

Best regards, Mickael