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Optic Atrophy v1.27 SPG7 Elena Savva commented on gene: SPG7: PMID: 32548275 - fs reported in AD optic atrophy where in NMD-predicted regions of the protein, were either isolated cases (1 proband) or segregated in a single family (2 affected).
**Several families with missense variants had more extensive segregation within families, and one was de novo - this is in ANOTHER gene, NOT SPG7
Optic Atrophy v1.12 SPG7 Elena Savva reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32548275, 36367250, 35243150; Phenotypes: Optical atrophy MONDO#0003608); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic Atrophy v0.128 SPG7 Zornitza Stark Marked gene: SPG7 as ready
Optic Atrophy v0.128 SPG7 Zornitza Stark Added comment: Comment when marking as ready: Note bi-allelic variants are associated with spastic paraplegia.
Optic Atrophy v0.128 SPG7 Zornitza Stark Gene: spg7 has been classified as Green List (High Evidence).
Optic Atrophy v0.128 SPG7 Zornitza Stark Phenotypes for gene: SPG7 were changed from to autosomal dominant optical atrophy
Optic Atrophy v0.127 SPG7 Zornitza Stark Publications for gene: SPG7 were set to
Optic Atrophy v0.126 SPG7 Zornitza Stark Mode of inheritance for gene: SPG7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Optic Atrophy v0.125 SPG7 Teresa Zhao reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: None; Publications: 32548275; Phenotypes: autosomal dominant optical atrophy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Optic Atrophy v0.60 AFG3L2 Crystle Lee changed review comment from: Recurrent missense, R468C, variant associated with OA - reported in 3 families.

PMID: 29181157; Colavito 2017; R468C reported in a patient with isolated OA
PMID: 26539208; Charif 2015: R468C reported in a family with OA and mild ID
PMID: 30252181; Magri 2018: Reported a patient with early-onset optic atrophy with spastic ataxia. Patient harboured de novo R468C and het frameshift in SPG7. Functional analysis of R468C in yeast showed abolished AFG3L2 function.

PMID: 30389403; Mancini 2019: Mouse model harbouring a different missense results in adult-onset ataxia and no vision loss; to: Recurrent missense, R468C, variant associated with OA - reported in 3 families.

PMID: 29181157; Colavito 2017; R468C reported in a patient with isolated OA
PMID: 26539208; Charif 2015: R468C reported in a family with OA and mild ID
PMID: 30252181; Magri 2018: Reported a patient with early-onset optic atrophy with spastic ataxia. Patient harboured de novo R468C and het frameshift in SPG7. Functional analysis of R468C in yeast showed abolished AFG3L2 function.

PMID: 30389403; Mancini 2019: Mouse model harbouring a different missense results in adult-onset ataxia and no vision loss
Optic Atrophy v0.0 SPG7 Zornitza Stark gene: SPG7 was added
gene: SPG7 was added to Optic Atrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SPG7 was set to Unknown