has material basis in germline mutation in PAX6 eye carcinoma hereditary renal cell carcinoma SMARCB1-deficient kidney medullary carcinoma hereditary neurological disease PAX6-related ocular dysgenesis https://github.com/monarch-initiative/mondo/issues/5477 https://github.com/monarch-initiative/mondo/issues/7066 MONDO:0800183 GARD:0026474 Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found that the diverse phenotypes associated with variants in PAX6 have all been associated with an autosomal dominant mode of inheritance. The high proportion of null and apparent loss-of-function PAX6 variants across all of these phenotypes indicates a common haploinsufficiency mechanism. The phenotypic variability among them is consistent with a single spectrum of disease. The term, ocular dysgenesis caused by defects in PAX6 regulation, was proposed by the ClinGen Glaucoma / Neuro-Ophthalmology GCEP as a parent term for cases of ocular disease caused by variants in the PAX6 gene itself, including this class, (MONDO:0800183 PAX6-related ocular dysgenesis) or by disruption of PAX6 expression by variants in the ELP4 locus (MONDO:0014937 aniridia 2) or TRIM44 locus (MONDO:0014938 aniridia 3). Any eye disorder in which the cause of the disease is a mutation in the PAX6 gene.