Severe microcephaly
Gene: BUB1BThe rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 10 Mar 2022, 1:37 p.m. | Last Modified: 10 Mar 2022, 1:37 p.m.
Panel Version: 2.292
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.Created: 5 May 2021, 11:55 a.m. | Last Modified: 5 May 2021, 11:55 a.m.
Panel Version: 2.124
Severe microcephaly is a feature of MVAS. PMID: 18548531: review of 13 families with 12 presenting with microcephaly
Sources: Expert listCreated: 4 Sep 2020, 10:10 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mosaic variegated aneuploidy syndrome 1 (MIM#257300)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: BUB1B.
Source Expert Review Green was added to BUB1B. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: bub1b has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: BUB1B.
Phenotypes for gene: BUB1B were changed from Mosaic variegated aneuploidy syndrome 1 (MIM#257300) to Mosaic variegated aneuploidy syndrome 1, OMIM:257300
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