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| Structural eye disease v0.76 | CHD7 | Nicola Ragge reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 16400610; Phenotypes: CHARGE syndrome, 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | CHD7 | Ivone Leong reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 16400610; Phenotypes: CHARGE syndrome, 214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | CHD7 |
Ivone Leong Source NHS GMS was added to CHD7. Mode of pathogenicity for gene CHD7 was changed from Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments to Other - please provide details in the comments Added phenotypes CHARGE syndrome, 214800 for gene: CHD7 |
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| Structural eye disease v0.2 | CHD7 |
Ellen McDonagh gene: CHD7 was added gene: CHD7 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHD7 were set to 16400610 Phenotypes for gene: CHD7 were set to CHARGE syndrome, 214800 Mode of pathogenicity for gene: CHD7 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments |
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