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| Primary immunodeficiency or monogenic inflammatory bowel disease v2.429 | HS3ST6 | Arina Puzriakova Phenotypes for gene: HS3ST6 were changed from Hereditary angioedema-8 (HAE8), MIM#619367 to ?Angioedema, hereditary, 8, OMIM:619367 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.428 | HS3ST6 | Arina Puzriakova Classified gene: HS3ST6 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.428 | HS3ST6 | 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 (PMID:33508266) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.428 | HS3ST6 | Arina Puzriakova Gene: hs3st6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.427 | HS3ST6 |
Zornitza Stark gene: HS3ST6 was added gene: HS3ST6 was added to Primary immunodeficiency. Sources: Literature Mode of inheritance for gene: HS3ST6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HS3ST6 were set to 33508266 Phenotypes for gene: HS3ST6 were set to Hereditary angioedema-8 (HAE8), MIM#619367 Review for gene: HS3ST6 was set to RED Added comment: Three affected individuals from a single family reported, missense variant, no functional data. Sources: Literature |
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