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| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.97 | SUZ12 | Sarah Leigh Classified gene: SUZ12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.97 | SUZ12 | Sarah Leigh Added comment: Comment on list classification: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.97 | SUZ12 | Sarah Leigh Gene: suz12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.96 | SUZ12 | Sarah Leigh Phenotypes for gene: SUZ12 were changed from Imagawa-Matsumoto syndrome, MIM# 618786 to Imagawa-Matsumoto syndrome 618786 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.95 | SUZ12 | Sarah Leigh Publications for gene: SUZ12 were set to 31736240; 28229514 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders v1.94 | SUZ12 |
Zornitza Stark gene: SUZ12 was added gene: SUZ12 was added to Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders. Sources: Expert list Mode of inheritance for gene: SUZ12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SUZ12 were set to 31736240; 28229514 Phenotypes for gene: SUZ12 were set to Imagawa-Matsumoto syndrome, MIM# 618786 Review for gene: SUZ12 was set to GREEN gene: SUZ12 was marked as current diagnostic Added comment: More than 10 unrelated individuals reported, overgrowth is a key feature of this syndrome. Sources: Expert list |
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