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| Bilateral congenital or childhood onset cataracts v1.32 | DNMBP | Ivone Leong edited their review of gene: DNMBP: Added comment: 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.; Changed publications: 30290152 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.31 | DNMBP | Ivone Leong reviewed gene: DNMBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.30 | DNMBP |
Ivone Leong 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 |
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