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Cataracts

Gene: POLG

Amber List (moderate evidence)

POLG (DNA polymerase gamma, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 31 panels

2 reviews

Ivone Leong (Genomics England Curator)

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

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

16 Dec 2020, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: POLG.

16 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: polg has been classified as Amber List (Moderate Evidence).

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