Activity
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11 actions
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| Autoinflammatory disorders v2.34 | RIPK1 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: RIPK1. Tag Q2_25_ NHS_review was removed from gene: RIPK1. |
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| Autoinflammatory disorders v2.34 | RIPK1 | Achchuthan Shanmugasundram commented on gene: RIPK1: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.33 | RIPK1 |
Achchuthan Shanmugasundram Source NHS GMS was added to RIPK1. Source Expert Review Green was added to RIPK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Autoinflammatory disorders v2.29 | RIPK1 | Achchuthan Shanmugasundram Classified gene: RIPK1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.29 | RIPK1 | Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Dorota Rowczenio, there is sufficient evidence available for the association of both monoallelic and biallelic variants in RIPK1 gene with autoinflammatory disease phenotypes (MIMs #618852 & 618108). Hence, this gene can be promoted to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.29 | RIPK1 | Achchuthan Shanmugasundram Gene: ripk1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.28 | RIPK1 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: RIPK1. Tag Q2_25_ NHS_review tag was added to gene: RIPK1. |
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| Autoinflammatory disorders v2.28 | RIPK1 | Achchuthan Shanmugasundram Phenotypes for gene: RIPK1 were changed from Autoinflammation with episodic fever and lymphadenopathy (autosomal dominant); Immunodeficiency 57 with autoinflammation (autosomal recessive) to Autoinflammation with episodic fever and lymphadenopathy, OMIM:618852; Immunodeficiency 57 with autoinflammation, OMIM: 618108 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.27 | RIPK1 | Achchuthan Shanmugasundram Publications for gene: RIPK1 were set to PMID: 31911632; PMID: 31827281; PMID:31827280; PMID: 39557292; PMID: 37452601; PMID:35716229; PMID:35786329 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.26 | RIPK1 | Achchuthan Shanmugasundram reviewed gene: RIPK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 30026316, 31827280, 31827281, 31911632, 35716229, 35786329, 39557292; Phenotypes: Autoinflammation with episodic fever and lymphadenopathy, OMIM:618852, Immunodeficiency 57 with autoinflammation, OMIM: 618108; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Autoinflammatory disorders v2.5 | RIPK1 |
Dorota Rowczenio gene: RIPK1 was added gene: RIPK1 was added to Autoinflammatory disorders. Sources: Expert list,Expert Review,Literature,Research Mode of inheritance for gene: RIPK1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RIPK1 were set to PMID: 31911632; PMID: 31827281; PMID:31827280; PMID: 39557292; PMID: 37452601; PMID:35716229; PMID:35786329 Phenotypes for gene: RIPK1 were set to Autoinflammation with episodic fever and lymphadenopathy (autosomal dominant); Immunodeficiency 57 with autoinflammation (autosomal recessive) Review for gene: RIPK1 was set to GREEN Added comment: Sources: Expert list, Expert Review, Literature, Research |
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