Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance

Genes (Basel). 2020 Oct 29;11(11):1274. doi: 10.3390/genes11111274.

Jamie M Ellingford^{1

2}, Robert B Hufnagel³, Gavin Arno^{4

5}

¹ North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, St Mary's Hospital, Manchester M13 9WL, UK.
² Division of Evolution and Genomic Sciences, Neuroscience and Mental Health Domain, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PT, UK.
³ Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20016, USA.
⁴ University College London Institute of Ophthalmology, London EC1V 9EL, UK.
⁵ Moorfields Eye Hospital, London EC1V 2PD, UK.

Abstract

Inherited retinal diseases (IRDs) are a diverse and variable group of rare human disorders [...].