Optic Atrophy

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Note there is only evidence for association between bi-allelic variants and OA, and even so, the evidence is limited.
Created: 15 Apr 2020, 11:06 p.m. | Last Modified: 15 Apr 2020, 11:06 p.m.
Panel Version: 0.65

Elena Savva (Victorian Clinical Genetics Services)

I don't know

Optic atrophy reported but in the minority of overall reports. Appears to be exclusive AR inheritance. Given the minority of cases believe this should be Amber matching PanelApp UK.

PMID: 31613174 - abstract only available. Notes a Chinese patient with optic atrophy with biallelic missense. Patient also had Early-Onset Parkinsonism, Progressive External Ophthalmoplegia.

PMID: 20142534 - a Belgium patient with optic atrophy with biallelic missense. Three other patients including one with the exact same genotype, did NOT have OA. Patients had Alpers-like Hepatocerebral Syndrome.

PMID: 30395865 - 1 family (2 sibs) with optic atrophy. Patients were homozygous for a missense but also carried a paternally inherited OPA1 variant (father was normal). Patients had MNGIE syndrome.
Created: 15 Apr 2020, 2:19 a.m. | Last Modified: 15 Apr 2020, 2:19 a.m.
Panel Version: 0.60

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459; Progressive external ophthalmoplegia, autosomal dominant 1 157640; Progressive external ophthalmoplegia, autosomal recessive 1 258450

Publications

History Filter Activity

15 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

15 Apr 2020, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459; Progressive external ophthalmoplegia, autosomal recessive 1 258450

15 Apr 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: POLG were set to

15 Apr 2020, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: POLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

15 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: POLG was added gene: POLG was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: POLG was set to Unknown