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| Structural eye disease v0.76 | SIX6 | Nicola Ragge reviewed gene: SIX6: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 23167593, 24702266, 29450879, 15266624; Phenotypes: Microphthalmia with cataract 2, 212550, Optic disc anomalies with retinal and/or macular dystrophy, 212550, Anophthalmia/Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown - Change | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.67 | SIX6 | Ivone Leong Mode of inheritance for gene: SIX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown - Change to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | SIX6 | Ivone Leong reviewed gene: SIX6: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: 23167593, 24702266, 29450879, 15266624; Phenotypes: Microphthalmia with cataract 2, 212550, Optic disc anomalies with retinal and/or macular dystrophy, 212550, Anophthalmia/Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown - Change; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | SIX6 |
Ivone Leong Source NHS GMS was added to SIX6. Mode of inheritance for gene SIX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown - Change Mode of pathogenicity for gene SIX6 was changed from to Other - please provide details in the comments Added phenotypes Microphthalmia with cataract 2, 212550; Anophthalmia/Microphthalmia; Optic disc anomalies with retinal and/or macular dystrophy, 212550 for gene: SIX6 Publications for gene SIX6 were changed from 23167593, 24702266 to 15266624; 29450879; 23167593; 24702266 |
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| Structural eye disease v0.5 | SIX6 | Ellen McDonagh Added comment: Comment on mode of inheritance: This is a Green gene on the Anophthalmia or microphthalmia gene panel (Version 1.15, code 34) with a mode of inheritance of monoallelic for Anophthalmia/Microphthalmia/ Microphthalmia with cataract. It is Amber on the Ocular coloboma gene panel (Version 1.20, code 294), with the mode of inheritance BOTH monoallelic and biallelic, autosomal or pseudoautosomal for Optic disc anomalies with retinal and/or macular dystrophy, 212550. It is therefore monoallelic here, to represent the mode of inheritance for the highest rating. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.5 | SIX6 | Ellen McDonagh Mode of inheritance for gene: SIX6 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.2 | SIX6 |
Ellen McDonagh gene: SIX6 was added gene: SIX6 was added to Structural eye disease. Sources: Expert Review Green Mode of inheritance for gene: SIX6 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SIX6 were set to 23167593, 24702266 Phenotypes for gene: SIX6 were set to Microphthalmia with cataract 2, 212550; Optic disc anomalies with retinal and/or macular dystrophy, 212550; Anophthalmia/Microphthalmia |
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