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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 |
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| 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 |
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| 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 |
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