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  3. DNMBP
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Bilateral congenital or childhood onset cataracts

Gene: DNMBP

Green List (high evidence)
DNMBP (dynamin binding protein)
EnsemblGeneIds (GRCh38): ENSG00000107554
EnsemblGeneIds (GRCh37): ENSG00000107554
OMIM: 611282, Gene2Phenotype
DNMBP is in 1 panel

1 review

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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

Publications

Created: 28 Aug 2019, 3:42 p.m.
Last Modified: 28 Aug 2019, 3:42 p.m.
Panel version: 1.32

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Cataract 48, 618415
OMIM
611282
Clinvar variants
Variants in DNMBP
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Aug 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

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