Limb girdle muscular dystrophy

Gene: POLG

Red List (low evidence)

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

4 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene will be demoted to Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 5:32 p.m. | Last Modified: 28 Nov 2019, 5:32 p.m.
Panel Version: 1.183

Chiara Marini Bettolo (NUTH)

Red List (low evidence)

Progressive external ophthalmoplegia, mitochondrial DNA depletion syndrome.
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Louise Daugherty (Genomics England Curator)

Comment on list classification: Comment on list classification: New gene added after analysis. To be reviewed by Neurology Test group 17th May 2019
Created: 14 May 2019, 11:27 a.m.

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700

Publications

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: polg has been classified as Red List (Low Evidence).

14 May 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to POLG.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to POLG.

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene POLG was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 for gene: POLG Publications for gene POLG were changed from to 15122711

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: POLG was added gene: POLG was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: POLG was set to