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Cataracts

Gene: POLG

No list

POLG (DNA polymerase gamma, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 30 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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

Phenotypes
POLG-related disorders

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

7 Jul 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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