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| Severe microcephaly v3.7 | DROSHA | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DROSHA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.5 | DROSHA | Arina Puzriakova Tag Q2_22_rating was removed from gene: DROSHA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.5 | DROSHA | Arina Puzriakova reviewed gene: DROSHA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v3.4 | DROSHA |
Arina Puzriakova Source Expert Review Green was added to DROSHA. Source NHS GMS was added to DROSHA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.301 | DROSHA | Sarah Leigh Entity copied from Genetic epilepsy syndromes v2.526 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.301 | DROSHA |
Sarah Leigh gene: DROSHA was added gene: DROSHA was added to Severe microcephaly. Sources: Expert Review Amber,Literature locus-type-rna-micro, Q2_22_rating tags were added to gene: DROSHA. Mode of inheritance for gene: DROSHA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DROSHA were set to 35405010 Phenotypes for gene: DROSHA were set to Global developmental delay; Intellectual disability; Seizures; Cerebral white matter atrophy; Abnormality of the corpus callosum; Abnormality of movement; Stereotypic behavior; Abnormality of head or neck; Short foot Penetrance for gene: DROSHA were set to unknown Mode of pathogenicity for gene: DROSHA was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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