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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.432 | MYOF | Arina Puzriakova Penetrance for gene MYOF was set from to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.431 | MYOF | Arina Puzriakova Classified gene: MYOF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.431 | MYOF | Arina Puzriakova Added comment: 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) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.431 | MYOF | Arina Puzriakova Gene: myof has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.430 | MYOF | Arina Puzriakova Phenotypes for gene: MYOF were changed from Hereditary angioedema-7 (HAE7), MIM#619366 to ?Angioedema, hereditary, 7, OMIM:619366 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.427 | MYOF |
Zornitza Stark 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 Added comment: 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. Sources: Literature |
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