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| Primary immunodeficiency or monogenic inflammatory bowel disease v4.141 | KCNA5 | Achchuthan Shanmugasundram Classified gene: KCNA5 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.141 | KCNA5 |
Achchuthan Shanmugasundram Added comment: Comment on list classification: PMID:34536415 reported a 17-year old female patient with early-onset pulmonary and cutaneous vasculitis and biallelic KCNA5 variant (c. 1545C>A) and supporting functional evidence. Biallelic KCNA5 variants have not yet been associated with any phenotypes either in OMIM or Gene2Phenotype. This gene should be rated amber with current evidence. |
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| Primary immunodeficiency or monogenic inflammatory bowel disease v4.141 | KCNA5 | Achchuthan Shanmugasundram Gene: kcna5 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.140 | KCNA5 | Achchuthan Shanmugasundram Phenotypes for gene: KCNA5 were changed from autoimmunity; autoinflammation to early-onset pulmonary and cutaneous vasculitis, MONDO:0800137 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.139 | KCNA5 | Achchuthan Shanmugasundram Publications for gene: KCNA5 were set to PMID: 35748970; PMID: 34536415 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v4.138 | KCNA5 | Achchuthan Shanmugasundram reviewed gene: KCNA5: Rating: AMBER; Mode of pathogenicity: None; Publications: 34536415; Phenotypes: early-onset pulmonary and cutaneous vasculitis, MONDO:0800137; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary immunodeficiency or monogenic inflammatory bowel disease v2.582 | KCNA5 |
Inga Nartisa gene: KCNA5 was added gene: KCNA5 was added to Primary immunodeficiency. Sources: Literature,Expert Review Mode of inheritance for gene: KCNA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KCNA5 were set to PMID: 35748970; PMID: 34536415 Phenotypes for gene: KCNA5 were set to autoimmunity; autoinflammation Review for gene: KCNA5 was set to GREEN Added comment: Sources: Literature, Expert Review |
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