Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with the relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence for this gene to be Green; however, the inclusion of this gene to the panel should be reviewed by the GMS specialist group.
Created: 16 Dec 2020, 4:14 p.m. | Last Modified: 16 Dec 2020, 4:14 p.m.
Panel Version: 2.46
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
Tag for-review tag was added to gene: POLG.
Gene: polg has been classified as Amber List (Moderate Evidence).
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