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| Structural eye disease v0.76 | PORCN | Nicola Ragge reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 17546030, 24859618; Phenotypes: Focal dermal hypoplasia 305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | PORCN | Ivone Leong reviewed gene: PORCN: Rating: GREEN; Mode of pathogenicity: ; Publications: 17546030, 24859618; Phenotypes: Focal dermal hypoplasia 305600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | PORCN |
Ivone Leong Source NHS GMS was added to PORCN. Added phenotypes Focal dermal hypoplasia 305600 for gene: PORCN Publications for gene PORCN were changed from 17546030, 24859618 to 24859618; 17546030 |
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| Structural eye disease v0.2 | PORCN |
Ellen McDonagh gene: PORCN was added gene: PORCN was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PORCN were set to 17546030, 24859618 Phenotypes for gene: PORCN were set to Focal dermal hypoplasia 305600 |
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