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Hereditary neuropathy or pain disorder v6.148 OPA3 Sarah Leigh Tag Q3_24_promote_green was removed from gene: OPA3.
Tag Q3_24_NHS_review was removed from gene: OPA3.
Hereditary neuropathy or pain disorder v6.148 OPA3 Sarah Leigh reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder v6.147 OPA3 Sarah Leigh Source Expert Review Green was added to OPA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Hereditary neuropathy or pain disorder v6.130 OPA3 Eleanor Williams Phenotypes for gene: OPA3 were changed from Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction; Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria, type III, 258501 to Optic atrophy 3 with cataract, OMIM:165300; optic atrophy 3, MONDO:0008133
Hereditary neuropathy or pain disorder v6.129 OPA3 Eleanor Williams Publications for gene: OPA3 were set to
Hereditary neuropathy or pain disorder v6.128 OPA3 Eleanor Williams Added comment: Comment on mode of inheritance: Cases with peripheral neuropathy appear to be associated with autosomal dominant Optic atrophy 3 with cataract. This gene is also associated with a recessive condition in OMIM.
Hereditary neuropathy or pain disorder v6.128 OPA3 Eleanor Williams Mode of inheritance for gene: OPA3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder v6.127 OPA3 Eleanor Williams Tag Q3_24_promote_green tag was added to gene: OPA3.
Tag Q3_24_NHS_review tag was added to gene: OPA3.
Hereditary neuropathy or pain disorder v6.127 OPA3 Eleanor Williams changed review comment from: Associated with 3-methylglutaconic aciduria, type III, OMIM:258501 (AR) and Optic atrophy 3 with cataract, OMIM:165300 (AD).

PMID:28050599 - Bourne et al 2017 - 1 case - woman with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a OPA3 c.235C > G p.(Leu79Val) variant that was confirmed to be de novo. The variant is not reported in gnomAD.

PMID: 31119193 - Horga et al 2019 - describe 2 families and one sporadic case with a syndromic form of OPA3-related autosomal dominant optic atrophy and cataract in which patients also show peripheral neuropathy. Heterozyous variants in OPA3 were identified c.23T>C (p.Met8Thr), c.313C>G (p.Gln105Glu) and c.313C>G (p.Gln105Glu) in each of the 3 families. In In 4 patients, the peripheral neuropathy was a major cause of disability or was severe enough to motivate the referral to specialists.

PMID:21036400 - Yu-Wai-Man et al 2011 - no patients with OPA3 variants reported, only OPA1 variants.; to: Associated with 3-methylglutaconic aciduria, type III, OMIM:258501 (AR) and Optic atrophy 3 with cataract, OMIM:165300 (AD).

PMID:28050599 - Bourne et al 2017 - 1 case - woman with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a OPA3 c.235C > G p.(Leu79Val) variant that was confirmed to be de novo. The variant is not reported in gnomAD.

PMID: 31119193 - Horga et al 2019 - describe 2 families and one sporadic case with a syndromic form of OPA3-related autosomal dominant optic atrophy and cataract in which patients also show peripheral neuropathy. Heterozyous variants in OPA3 were identified c.23T>C (p.Met8Thr), c.313C>G (p.Gln105Glu) and c.313C>G (p.Gln105Glu) in each of the 3 families. In 4 patients, the peripheral neuropathy was a major cause of disability or was severe enough to motivate the referral to specialists.

PMID:21036400 - Yu-Wai-Man et al 2011 - no patients with OPA3 variants reported, only OPA1 variants.
Hereditary neuropathy or pain disorder v6.127 OPA3 Eleanor Williams reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28050599, 31119193; Phenotypes: Optic atrophy 3 with cataract, OMIM:165300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Hereditary neuropathy or pain disorder v5.19 OPA3 Alexander Rossor edited their review of gene: OPA3: Added comment: Peripehral neuropathy reported in multiple unrelated individuals and should be included in panel; Changed publications to: 28050599: 21036400 : 31119193:
Hereditary neuropathy or pain disorder v0.86 OPA3 Louise Daugherty commented on gene: OPA3: Gene rated Amber : From feedback from Genomics England Clinical team (Anna de Burca and Meriel McEntagart): Extension of panel scope - syndrome with non-neurological features / Broader phenotype: 3-methylglutaconic aciduria type III
Hereditary neuropathy or pain disorder v0.84 OPA3 Louise Daugherty commented on gene: OPA3: This gene has changed ratings because the panel for R78 was going to be a broad panel (to include conditions where neuropathy is part of a more complex phenotype or where there is overlap with another neurological presentation eg. HSP) but subsequently during the follow up call on 21st June with the Test Group it was agreed that it was more clinically relevant for R78 to be restricted to genes that are associated with isolated neuropathy, which this panel represents. For genes that represent the broader phenotype see https://panelapp.genomicsengland.co.uk/panels/85/.
Hereditary neuropathy or pain disorder v0.83 OPA3 Louise Daugherty Source Expert Review Amber was added to OPA3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Hereditary neuropathy or pain disorder v0.1 OPA3 Ellen McDonagh gene: OPA3 was added
gene: OPA3 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH
Mode of inheritance for gene: OPA3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: OPA3 were set to Infantile optic atrophy, additionally, extra pyramidal disorder (chorea), ataxia, cognitive defects, axonal sensory neuropathy, autonomic neuropathy, pseudo-obstruction; Optic atrophy 3 with cataract, 165300; 3-methylglutaconic aciduria, type III, 258501