Hereditary ataxia

Gene: POLG

Green List (high evidence)

POLG (DNA polymerase gamma, catalytic subunit)
EnsemblGeneIds (GRCh38): ENSG00000140521
EnsemblGeneIds (GRCh37): ENSG00000140521
OMIM: 174763, Gene2Phenotype
POLG is in 28 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Mode of inheritance from reviewer.
Created: 24 Aug 2016, 12:44 p.m.

Damian Smedley (Genomics England Curator)

Comment on list classification: Evidence from expert reviewer and OMIM
Created: 4 Feb 2016, 2:15 p.m.

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Green List (high evidence)

Fine. Lots of literature, positives in our cohort. Mode of inheritance: AD/AR. Autosomal dominant may be dominant negative mechanism.
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)

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

History Filter Activity

24 Aug 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for POLG was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

POLG was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

POLG was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN