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| Structural eye disease v0.76 | PUF60 | Nicola Ragge reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 19464398, 24140112, 27804958, 28327570; Phenotypes: Verheij syndrome, 615583, VRJS, ocular abnormalities, PUF60 syndrome, Chromosome 8q24.3 deletion syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | PUF60 | Ivone Leong reviewed gene: PUF60: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 19464398, 24140112, 27804958, 28327570; Phenotypes: Verheij syndrome, 615583, VRJS, ocular abnormalities, PUF60 syndrome, Chromosome 8q24.3 deletion syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | PUF60 |
Ivone Leong Source NHS GMS was added to PUF60. Mode of pathogenicity for gene PUF60 was changed from to Other - please provide details in the comments Added phenotypes Verheij syndrome, 615583; PUF60 syndrome; Chromosome 8q24.3 deletion syndrome; VRJS; ocular abnormalities for gene: PUF60 Publications for gene PUF60 were changed from 19464398; 24140112; 27804958; 28327570 to 27804958; 24140112; 28327570; 19464398 |
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| Structural eye disease v0.2 | PUF60 |
Ellen McDonagh gene: PUF60 was added gene: PUF60 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: PUF60 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PUF60 were set to 19464398; 24140112; 27804958; 28327570 Phenotypes for gene: PUF60 were set to Verheij syndrome, 615583; VRJS; ocular abnormalities; PUF60 syndrome; Chromosome 8q24.3 deletion syndrome |
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