DNMBP is associated with a phenotype on OMIM but not on Gene2Phenotype. PMID: 30290152 reported on 3 unrelated consanguineous families from Pakistan where affected family members have congenital cataracts. All three families have different variants. The authors also created a Drosophila knockdown model and showed the mechanism by which DNMBP causes cataracts. There is enough evidence for this gene to be green.
Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:43 p.m.
Panel Version: 1.32
This gene was submitted on behalf of Graeme Black (North West GLH). Gene Symbol submitted: DNMBP; Suggested initial gene rating: Green; Evidence for inclusion: [none provided]; Evidence for exclusion: [none provided]; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): [none provided]
Created: 28 Aug 2019, 3:42 p.m. | Last Modified: 28 Aug 2019, 3:42 p.m.
Panel Version: 1.31
gene: DNMBP was added gene: DNMBP was added to Cataracts. Sources: Expert Review Green,Expert list Mode of inheritance for gene: DNMBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNMBP were set to 30290152 Phenotypes for gene: DNMBP were set to Cataract 48, 618415