Structural eye disease
Gene: RERE
Fregeau reports 10 cases with neurodevelopmental disorder and RERE variants, three of which had structural eye anomalies. One case has microphthalmia and optic nerve colobomas and a de novo missense (het), one case with iris coloboma with de novo inframe insertion (who also has de novo variants in other genes), a case with Peter's anomaly and iris abnormalities with a de novo missense. The inframe insertion reported by Fregeau was also found by Jordan in two unrelated cases, one with iris coloboma,corneal clouding and optic nerve hypoplasia, and one with iris and chorioretinal coloboma, both cases were de novo.Created: 2 Oct 2019, 3:48 p.m. | Last Modified: 2 Oct 2019, 3:48 p.m.
Panel Version: 0.91
Publications
Phenotypes
Neurodevelopment Disorder with anomalies of the Brain, Eye and/or Heart, NEDBEH
Source Expert Review Green was added to RERE. Source NHS GMS was added to RERE. Publications for gene RERE were changed from to 27087320; 29330883 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Source Expert Review Amber was added to RERE. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
gene: RERE was added gene: RERE was added to Structural eye disease. Sources: London North GLH Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RERE were set to Neurodevelopment Disorder with anomalies of the Brain, Eye and/or Heart, NEDBEH, 616975