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| Structural eye disease v0.76 | RBP4 | Nicola Ragge reviewed gene: RBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 9888420, 27892788, 25910211 ; Phenotypes: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.62 | RBP4 | Ivone Leong Classified gene: RBP4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.62 | RBP4 | Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Structural eye disease panel webex call 24th April 2019: It was agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.62 | RBP4 | Ivone Leong Gene: rbp4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.61 | RBP4 | Ivone Leong Mode of inheritance for gene: RBP4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | RBP4 | Ivone Leong reviewed gene: RBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 9888420, 27892788, 25910211 ; Phenotypes: Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | RBP4 |
Ivone Leong Source NHS GMS was added to RBP4. Added phenotypes Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 for gene: RBP4 Publications for gene RBP4 were changed from 9888420 to 25910211; 9888420; 27892788 |
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| Structural eye disease v0.2 | RBP4 |
Ellen McDonagh gene: RBP4 was added gene: RBP4 was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: RBP4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RBP4 were set to 9888420 Phenotypes for gene: RBP4 were set to Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 |
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