This gene was added to this panel due to new publications reporting missense variants in 13 families, with function evidence for a damaging effect (PMID: 28190459; 28190456). Confirmed with Sarah Waller (Manchester Centre for Genomic Medicine) that this should be green on the cataracts panel.
Created: 23 Feb 2017, 2:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Congenital Muscular Dystrophy Overlapping Marinesco-Sjogren Syndrome and Dystroglycanopathy; Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment
This gene has been classified as Green List (High Evidence).
INPP5K was added to Cataractspanel. Sources: Literature
INPP5K was created by ellenmcdonagh