Optic neuropathy
Gene: SPG7The mode of inheritance of this gene has been updated to 'BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 1:02 p.m. | Last Modified: 30 Jan 2023, 1:02 p.m.
Panel Version: 3.7
New papers (32548275; 33841295) describing SPG7 as a cause of autosomal dominant optic atrophy - update of inheritance needed.Created: 3 Aug 2022, 3:44 p.m. | Last Modified: 3 Aug 2022, 3:44 p.m.
Panel Version: 2.70
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Dominnat optic atrophy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Based on the expert review from Penny Clouston (Oxford) and recent literature the MOI should be changed from "BIALLELIC, autosomal or pseudoautosomal" to "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal".Created: 9 Aug 2022, 8:05 a.m. | Last Modified: 9 Aug 2022, 8:05 a.m.
Panel Version: 2.72
Comment on publications: New publications addedCreated: 9 Aug 2022, 8:03 a.m. | Last Modified: 9 Aug 2022, 8:03 a.m.
Panel Version: 2.71
Comment on list classification: Promoted from amber to green. There are >3 unrelated cases with different variants reported. It is associated with a phenotype in OMIM but not in Gene2Phenotype. Based on this evidence and the expert review, the gene has been given a green rating.Created: 22 Mar 2019, 3:14 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: OA is a very minor part in only 1 of the OMIM families. Neurological presentation predominates here so unlikely to be recruited under OA, and risk of inappropriate unrelated predictive information being generated.Created: 11 Sep 2016, 9:18 a.m.
Comment on list classification: Spastic paraplegia 7, autosomal recessive includes optic atrophy, and is green on the version 1.0 HSP panel.Created: 7 Sep 2016, 9:47 a.m.
Tag Q3_22_MOI was removed from gene: SPG7. Tag Q3_22_NHS_review was removed from gene: SPG7.
Source NHS GMS was added to SPG7. Mode of inheritance for gene SPG7 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Tag Q3_21_MOI was removed from gene: SPG7. Tag Q3_21_NHS_review was removed from gene: SPG7. Tag Q3_22_MOI tag was added to gene: SPG7. Tag Q3_22_NHS_review tag was added to gene: SPG7.
Tag Q3_21_MOI tag was added to gene: SPG7. Tag Q3_21_NHS_review tag was added to gene: SPG7.
Phenotypes for gene: SPG7 were changed from SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259 to SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, OMIM:607259; autosomal dominant optic atroph, MONDO:0020250
Publications for gene: SPG7 were set to 9635427; 23065789; 22964162; 25034272
Gene: spg7 has been classified as Green List (High Evidence).
Publications for gene: SPG7 were set to
Phenotypes for gene: SPG7 were changed from to SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE, 607259
Mode of inheritance for gene: SPG7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Source London North GLH was added to SPG7.
13.09.2016: 'Inherited optic neuropathies' was removed as a relevant disorder from the Posterior segment abnormalities gene panel (version 1.9) and this panel was approved to live. It has been internally reviewed and revised based on evidence available for each gene, and was promoted to version 1 to be used for analysis.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
SPG7 was added to Inherited optic neuropathiespanel. Sources: Expert