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| Structural eye disease v0.76 | PIGL | Nicola Ragge reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 22444671; Phenotypes: CHIME syndrome, 280000, Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.71 | PIGL | Ivone Leong commented on gene: PIGL: Promoted from amber to green as there is sufficient evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | PIGL | Ivone Leong reviewed gene: PIGL: Rating: GREEN; Mode of pathogenicity: ; Publications: 22444671; Phenotypes: CHIME syndrome, 280000, Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | PIGL |
Ivone Leong Source NHS GMS was added to PIGL. Source Expert Review Green was added to PIGL. Added phenotypes CHIME syndrome, 280000; Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome for gene: PIGL Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v0.2 | PIGL |
Ellen McDonagh gene: PIGL was added gene: PIGL was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: PIGL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGL were set to 22444671 Phenotypes for gene: PIGL were set to CHIME syndrome, 280000; Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome |
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