Optic Atrophy

Gene: POLG

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

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

• PMID: 31613174
• 20142534
• 30395865