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| Structural eye disease v0.95 | RARA |
Ivone Leong gene: RARA was added gene: RARA was added to Structural eye disease. Sources: Expert list Mode of inheritance for gene: RARA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RARA were set to 31343737 Phenotypes for gene: RARA were set to Coloboma Review for gene: RARA was set to RED Added comment: Gene added on behalf of Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). There is currently only 1 reported case of a de novo variant in RARA in a patient with symptoms overlapping those described in RARB patients (coloboma, muscular hypotonia, dilated pulmonary artery, ectopic kidney). Therefore, this gene has been given a Red rating until further evidence is available. Sources: Expert list |
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| Structural eye disease v0.76 | RARB | Nicola Ragge reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24859618; Phenotypes: Microphthalmia, syndromic 12, 615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | RARB | Ivone Leong reviewed gene: RARB: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24859618; Phenotypes: Microphthalmia, syndromic 12, 615524; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | RARB |
Ivone Leong Source NHS GMS was added to RARB. Mode of pathogenicity for gene RARB was changed from to Other - please provide details in the comments Added phenotypes Microphthalmia, syndromic 12, 615524 for gene: RARB |
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| Structural eye disease v0.2 | RARB |
Ellen McDonagh gene: RARB was added gene: RARB was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: RARB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RARB were set to 24859618 Phenotypes for gene: RARB were set to Microphthalmia, syndromic 12, 615524 |
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