Cataracts are described in individuals with bi-allelic and mono-allelic POLG variants. Cataracts have been described as congenital/preceding other clinical manifestations.
Sources: Expert list
Created: 7 Jul 2020, 3:17 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
gene: POLG was added gene: POLG was added to Cataracts. Sources: Expert list Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: POLG were set to 20301791; 29358615; 22405928 Phenotypes for gene: POLG were set to POLG-related disorders Review for gene: POLG was set to GREEN