| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe microcephaly v5.5 | BUB1 | Arina Puzriakova Tag Q4_23_promote_green was removed from gene: BUB1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v5.5 | BUB1 |
Arina Puzriakova Source Expert Review Green was added to BUB1. Source NHS GMS was added to BUB1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe microcephaly v5.4 | BUB1 | Arina Puzriakova edited their review of gene: BUB1: Added comment: The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.37 | BUB1 | Eleanor Williams commented on gene: BUB1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.37 | BUB1 |
Eleanor Williams Tag Q4_22_promote_green was removed from gene: BUB1. Tag Q4_23_promote_green tag was added to gene: BUB1. |
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| Severe microcephaly v4.28 | BUB1 | Arina Puzriakova Entity copied from Intellectual disability - microarray and sequencing v5.205 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe microcephaly v4.28 | BUB1 |
Arina Puzriakova gene: BUB1 was added gene: BUB1 was added to Severe microcephaly. Sources: Expert Review Amber,Literature Q4_22_promote_green tags were added to gene: BUB1. Mode of inheritance for gene: BUB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BUB1 were set to 35044816 Phenotypes for gene: BUB1 were set to Microcephaly 30, primary, autosomal recessive, OMIM:620183 Penetrance for gene: BUB1 were set to Complete |
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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 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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