Optic Atrophy
Gene: POLGComment 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
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
Gene: polg has been classified as Amber List (Moderate Evidence).
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
Publications for gene: POLG were set to
Mode of inheritance for gene: POLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: polg has been classified as Amber List (Moderate Evidence).
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