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| Structural eye disease v0.76 | BCOR | Nicola Ragge reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 15004558, 17517692, 29974297; Phenotypes: Microphthalmia, syndromic 2, 300166; 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 | BCOR | Ivone Leong reviewed gene: BCOR: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 15004558, 17517692, 29974297; Phenotypes: Microphthalmia, syndromic 2, 300166; 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 | BCOR |
Ivone Leong Source NHS GMS was added to BCOR. Mode of pathogenicity for gene BCOR was changed from to Other - please provide details in the comments Added phenotypes Microphthalmia, syndromic 2, 300166 for gene: BCOR Publications for gene BCOR were changed from to 29974297; 15004558; 17517692 |
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| Structural eye disease v0.2 | BCOR |
Ellen McDonagh gene: BCOR was added gene: BCOR was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: BCOR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: BCOR were set to Microphthalmia, syndromic 2, 300166 |
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