Primary immunodeficiencyGene: MYOF
Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Rating Red as only a single family has been reported at this time. Likely incomplete penetrance as one unaffected family member also carried the variant (PMID:32542751)
Created: 15 Jun 2021, 10:43 a.m. | Last Modified: 15 Jun 2021, 10:43 a.m.
Panel Version: 2.431
Three individuals from one family reported, onset of recurrent episodic swelling of the face, lips, and oral mucosa was in the second decade. Variant was also present in another unaffected family member. Some functional data.
Created: 11 Jun 2021, 10:39 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Hereditary angioedema-7 (HAE7), MIM#619366
Penetrance for gene MYOF was set from to None
Gene: myof has been classified as Red List (Low Evidence).
Phenotypes for gene: MYOF were changed from Hereditary angioedema-7 (HAE7), MIM#619366 to ?Angioedema, hereditary, 7, OMIM:619366
gene: MYOF was added gene: MYOF was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: MYOF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYOF were set to 32542751 Phenotypes for gene: MYOF were set to Hereditary angioedema-7 (HAE7), MIM#619366 Review for gene: MYOF was set to RED