Structural eye disease
Gene: PIGL
Ng described Five familiesCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHIME syndrome, 280000; Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome
Publications
Promoted from amber to green as there is sufficient evidence.Created: 24 Apr 2019, 2:36 p.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Ng described Five familiesCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
CHIME syndrome, 280000; Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis,Mental Retardation, and Ear Anomalies Syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
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)
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