| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary angioedema v1.7 | HS3ST6 | Zornitza Stark Publications for gene: HS3ST6 were set to 33508266 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary angioedema v1.6 | HS3ST6 | Zornitza Stark edited their review of gene: HS3ST6: Added comment: PMID 40848077: reports additional patient with missense variant but no further supportive data.; Changed publications: 33508266, 40848077 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary angioedema v0.12 | HS3ST6 | Zornitza Stark Marked gene: HS3ST6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary angioedema v0.12 | HS3ST6 | Zornitza Stark Gene: hs3st6 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary angioedema v0.12 | HS3ST6 |
Zornitza Stark gene: HS3ST6 was added gene: HS3ST6 was added to Hereditary angioedema. Sources: Expert list 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: Expert list |
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