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| Bilateral congenital or childhood onset cataracts v1.32 | WFS1 | Ivone Leong changed review comment from: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants. There is enough evidence for this gene to be green.; to: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants in this gene. There is enough evidence for this gene to be green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.32 | WFS1 | Ivone Leong changed review comment from: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants. There is enough evidence for this gene to be green.; to: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants. There is enough evidence for this gene to be green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.32 | WFS1 | Ivone Leong edited their review of gene: WFS1: Added comment: WFS1 is associated with a phenotype on OMIM but not Gene2Phenotype. There are >3 unrelated cases of patients with WFS who also have congenital cataracts. There are patients who have monollelic or biallelic variants. There is enough evidence for this gene to be green.; Changed publications: 28468959, 21067485, 23531866, 21623599, 27217304, 23373429, 27468121, 28271591, 16151413 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.31 | WFS1 | Ivone Leong reviewed gene: WFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Bilateral congenital or childhood onset cataracts v1.30 | WFS1 |
Ivone Leong gene: WFS1 was added gene: WFS1 was added to Cataracts. Sources: Expert Review Green,Expert list Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: WFS1 were set to 27217304; 21067485; 28468959; 23531866; 21623599; 23373429; 28271591; 16151413; 27468121 Phenotypes for gene: WFS1 were set to ?Cataract 41, 116400 |
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