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Fetal anomalies v0.1492 MIB1 Zornitza Stark Marked gene: MIB1 as ready
Fetal anomalies v0.1492 MIB1 Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1492 MIB1 Zornitza Stark Classified gene: MIB1 as Amber List (moderate evidence)
Fetal anomalies v0.1492 MIB1 Zornitza Stark Gene: mib1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1469 MIB1 Krithika Murali gene: MIB1 was added
gene: MIB1 was added to Fetal anomalies. Sources: Expert list,Literature
Mode of inheritance for gene: MIB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MIB1 were set to 33057194
Phenotypes for gene: MIB1 were set to Congenital heart disease
Review for gene: MIB1 was set to AMBER
Added comment: Last reviewed March and Dec 2021 - no additional evidence

Li 2018 (PMID: 30322850):
- in 4 CHD patients: p.Q237H (gv2v3 absent), p.W271G (gv2v3 absent), p.S520R (v2 5 hets) and p.T312Kfs*55 (NMD-pred, absent but many comparables in gnomAD).
- HEK293T cells transfection studies showed: T312Kfs*55 and W271G strongly impaired MIB1 function on substrate ubiquitination, while Q237H and S520R had slight or no obvious changes. Interaction between MIB1 and JAG1 is severely interrupted by p.T312Kfs*55 and p.W271G, but not really in the other 2 missense.
- Overexpression of wt or mutant in zebrafish all resulted in dysmorphic pheno, therefore not informative.

PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 11 de novo variants (1 frameshift, 2 missense, 2 splice acceptor, 1 splice donor, 5 stopgain) identified in ~10,000 cases with developmental disorders (no other phenotype info provided).
Sources: Expert list, Literature