Activity
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13 actions
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| Limb disorders v4.2 | MECOM | Arina Puzriakova Phenotypes for gene: MECOM were changed from Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738; radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MONDO:0014758 to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.71 | MECOM |
Eleanor Williams Tag Q3_21_rating was removed from gene: MECOM. Tag Q3_21_NHS_review was removed from gene: MECOM. |
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| Limb disorders v2.71 | MECOM | Eleanor Williams commented on gene: MECOM: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.70 | MECOM |
Eleanor Williams Source Expert Review Green was added to MECOM. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Limb disorders v2.56 | MECOM | Eleanor Williams Tag Q3_21_NHS_review tag was added to gene: MECOM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.54 | MECOM | Eleanor Williams Classified gene: MECOM as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.54 | MECOM | Eleanor Williams Added comment: Comment on list classification: Promoting from grey to amber, with a recommendation for green rating following GMS review. There are sufficient cases with a radioulnar synostosis phenotype to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.54 | MECOM | Eleanor Williams Gene: mecom has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.53 | MECOM | Eleanor Williams Phenotypes for gene: MECOM were changed from Radioulnar synostosis; Brachymesophalangia to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738; radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MONDO:0014758 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.52 | MECOM | Eleanor Williams Publications for gene: MECOM were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.51 | MECOM | Eleanor Williams Tag Q3_21_rating tag was added to gene: MECOM. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.51 | MECOM | Eleanor Williams reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: None; Publications: 26581901, 29200407, 30536840; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738, radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MONDO:0014758; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb disorders v2.38 | MECOM |
Ellen Thomas gene: MECOM was added gene: MECOM was added to Limb disorders. Sources: Other Mode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: MECOM were set to Radioulnar synostosis; Brachymesophalangia Review for gene: MECOM was set to AMBER Added comment: On bleeding disorders panels but also reported to have limb phenotypes in some patients Sources: Other |
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