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| Structural eye disease v0.76 | PAX3 | Nicola Ragge reviewed gene: PAX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Waardenburg syndrome, type 3, Waardenburg syndrome, type 1, 148820, 193500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.49 | PAX3 | Ivone Leong edited their review of gene: PAX3: Changed phenotypes: Waardenburg syndrome, type 3, Waardenburg syndrome, type 1, 148820, 193500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.39 | PAX3 | Ivone Leong reviewed gene: PAX3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Joubert syndrome 22 (microphthalmia/optic nerve coloboma, intrauterine growth retardation, facial dysmorphism, postaxial polydactyly of feet, syndactyly, polydactyly, renal hypoplasia, extinguished electroretinogram), 615665; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.13 | PAX3 |
Ivone Leong gene: PAX3 was added gene: PAX3 was added to Structural eye disease. Sources: NHS GMS Mode of inheritance for gene: PAX3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PAX3 were set to Waardenburg syndrome, type 1, 193500; Waardenburg syndrome, type 3, 148820 |
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