Growth failure
Gene: BUB1B
BUB1B (BUB1 mitotic checkpoint serine/threonine kinase B)
EnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000156970
EnsemblGeneIds (GRCh37): ENSG00000156970
OMIM: 602860, Gene2Phenotype
BUB1B is in 14 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mosaic Variegated Aneuploidy Syndrome (MVA) is a rare autosomal recessive disorder characterized by mosaic aneuploidies involving multiple chromosomes and tissues. Affected individuals typically present with severe intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, developmental delay and predisposition to cancer and epilepsy.
More than 10 families reported.
Sources: Expert ReviewCreated: 15 Aug 2021, 4:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mosaic variegated aneuploidy syndrome 1, MIM#257300
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Mosaic variegated aneuploidy syndrome 1, MIM#257300
- OMIM
- 602860
- Clinvar variants
- Variants in BUB1B
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Fetal anomalies
- Clefting disorders
- Prepair 1000+
- Microcephaly
- Mendeliome
- Sarcoma soft tissue
- Intellectual disability syndromic and non-syndromic
- Callosome
- Wilms Tumour
- Cancer Predisposition_Paediatric
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Hydrocephalus_Ventriculomegaly
- Growth failure
History Filter Activity
15 Aug 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bub1b has been classified as Green List (High Evidence).
15 Aug 2021, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bub1b has been classified as Green List (High Evidence).
15 Aug 2021, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BUB1B was added gene: BUB1B was added to Growth failure in early childhood. Sources: Expert Review 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