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| Structural eye disease v0.76 | YAP1 | Nicola Ragge reviewed gene: YAP1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24462371, 27267789, 28801591 ; Phenotypes: isolated ocular coloboma, Coloboma, ocular, 120433, Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | YAP1 | Ivone Leong reviewed gene: YAP1: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 24462371, 27267789, 28801591 ; Phenotypes: isolated ocular coloboma, Coloboma, ocular, 120433, Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | YAP1 |
Ivone Leong Source NHS GMS was added to YAP1. Mode of pathogenicity for gene YAP1 was changed from to Other - please provide details in the comments Added phenotypes Coloboma, ocular, 120433; Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433; isolated ocular coloboma for gene: YAP1 Publications for gene YAP1 were changed from 24462371; 27267789; 26209646 to 24462371; 27267789; 28801591 |
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| Structural eye disease v0.2 | YAP1 |
Ellen McDonagh gene: YAP1 was added gene: YAP1 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: YAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: YAP1 were set to 24462371; 27267789; 26209646 Phenotypes for gene: YAP1 were set to isolated ocular coloboma; Coloboma, ocular, 120433; Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433 |
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