| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe microcephaly v2.292 | BUB1B | Eleanor Williams Tag Q2_21_rating was removed from gene: BUB1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.292 | BUB1B | Sarah Leigh commented on gene: BUB1B | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.291 | BUB1B |
Eleanor Williams Source Expert Review Green was added to BUB1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v2.124 | BUB1B | Ivone Leong Classified gene: BUB1B as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.124 | BUB1B | Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). There is enough evidence to support gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.124 | BUB1B | Ivone Leong Gene: bub1b has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.123 | BUB1B | Ivone Leong Tag Q2_21_rating tag was added to gene: BUB1B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.123 | BUB1B | Ivone Leong Phenotypes for gene: BUB1B were changed from Mosaic variegated aneuploidy syndrome 1 (MIM#257300) to Mosaic variegated aneuploidy syndrome 1, OMIM:257300 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v2.20 | BUB1B |
Zornitza Stark gene: BUB1B was added gene: BUB1B was added to Severe microcephaly. Sources: Expert list Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BUB1B were set to 18548531 Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1 (MIM#257300) Review for gene: BUB1B was set to GREEN gene: BUB1B was marked as current diagnostic Added comment: Severe microcephaly is a feature of MVAS. PMID: 18548531: review of 13 families with 12 presenting with microcephaly Sources: Expert list |
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