| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Segmental overgrowth disorders - Deep sequencing v2.16 | SUZ12 | Catherine Snow Tag for-review was removed from gene: SUZ12. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v2.16 | SUZ12 | Catherine Snow commented on gene: SUZ12 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v2.15 | SUZ12 |
Catherine Snow Source Expert Review Green was added to SUZ12. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Segmental overgrowth disorders - Deep sequencing v2.7 | SUZ12 | Sarah Leigh Classified gene: SUZ12 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v2.7 | SUZ12 | Sarah Leigh Gene: suz12 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Segmental overgrowth disorders - Deep sequencing v2.6 | SUZ12 |
Sarah Leigh gene: SUZ12 was added gene: SUZ12 was added to Segmental overgrowth disorders. Sources: Literature for-review tags were added to gene: SUZ12. Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SUZ12 were set to 28229514; 30019515; 31736240; 15385962; 19535498; 31724824 Phenotypes for gene: SUZ12 were set to Imagawa-Matsumoto syndrome 618786 Review for gene: SUZ12 was set to GREEN Added comment: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 5 variants reported in at least 13 affected individuals from 12 families. Sources: Literature |
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