Optic Atrophy

Gene: SPG7

Green List (high evidence)

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

Created: 18 Jan 2024, 3:44 a.m. | Last Modified: 18 Jan 2024, 3:44 a.m.

Panel Version: 1.27

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 in this gene had more extensive segregation within families, and one was de novo.

PMID: 36367250 - additional de novo missense variant, patient had OA but also nystagmus. Fig 2 shows a summary of all OA variants in SPG7, lists a total of 4 NMD PTCs

PMID: 35243150 - 57yo patient with a homozygous start loss and childhood optic nerve atrophy. Had subtle signs of spastic paraplegia. Fx was "unremarkable"

Created: 27 Apr 2023, 1:46 a.m. | Last Modified: 27 Apr 2023, 1:46 a.m.

Panel Version: 1.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Optical atrophy MONDO#0003608)

Publications

• 32548275
• 36367250
• 35243150

Comment when marking as ready: Note bi-allelic variants are associated with spastic paraplegia.

Created: 18 Feb 2021, 3:58 a.m. | Last Modified: 18 Feb 2021, 3:58 a.m.

Panel Version: 0.128

Green List (high evidence)

7 families reported for AD OA, including 5 missense and 2 frameshift variants.

Created: 18 Feb 2021, 1:51 a.m. | Last Modified: 18 Feb 2021, 1:51 a.m.

Panel Version: 0.125

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
autosomal dominant optical atrophy

Publications

• 32548275