Activity
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| Bleeding and platelet disorders v4.5 | RAP1B | Ida Ertmanska Phenotypes for gene: RAP1B were changed from Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies (OMIM #620654) to Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654; thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, MONDO:0958000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v4.4 | RAP1B | Ida Ertmanska Publications for gene: RAP1B were set to PMID: 32627184; 35451551; 37850357 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v4.3 | RAP1B |
Ida Ertmanska Tag Q4_25_promote_green tag was added to gene: RAP1B. Tag Q4_25_NHS_review tag was added to gene: RAP1B. |
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| Bleeding and platelet disorders v4.3 | RAP1B | Ida Ertmanska Classified gene: RAP1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v4.3 | RAP1B | Ida Ertmanska Gene: rap1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v4.2 | RAP1B | Ida Ertmanska reviewed gene: RAP1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32627184, 35451551; Phenotypes: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bleeding and platelet disorders v4.2 | RAP1B |
Carl Fratter gene: RAP1B was added gene: RAP1B was added to Bleeding and platelet disorders. Sources: Expert Review Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAP1B were set to PMID: 32627184; 35451551; 37850357 Phenotypes for gene: RAP1B were set to Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies (OMIM #620654) Penetrance for gene: RAP1B were set to unknown Mode of pathogenicity for gene: RAP1B was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: RAP1B was set to GREEN Added comment: Specific gain-of-function missense variants have been associated with this disorder to date. RAP1B is already included as a green gene on other panels, including the R91 cytopenia panel. It would be appropriate to add this gene to the R90 panel, as other syndromic thrombocytopenia associated genes are included on this panel. This opinion is supported by the Central&South GLH haemostasis genomics MDT. Sources: Expert Review |
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