Retinal disorders
Gene: SPG7
Associated with OMIM: 607259 and as definitive Gen2Phen gene for the same condition. Optic atrophy was reported in three patients from two families (PMID:9635427), but it was not evident in the family reported in PMID:17646629. Numerous biallelic SPG7 variants have been reported (PMIDs: 9635427; 16534102; 17646629; 18200586, 20186691; 22571692) and at least five monoallelic SPG7 variants have been associated with Spastic paraplegia 7, autosomal recessive, OMIM:607259 (PMIDs: 18200586; 22571692). For this reason, the mode of inheritance for this gene should be BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form) autosomal or pseudoautosomalCreated: 11 Apr 2023, 1:47 p.m. | Last Modified: 11 Apr 2023, 1:47 p.m.
Panel Version: 4.6
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
optic atrophy associated?Created: 30 Aug 2019, 2:12 p.m. | Last Modified: 30 Aug 2019, 2:12 p.m.
Panel Version: 1.159
Gene: spg7 has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: SPG7 was changed from to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes for gene: SPG7 were changed from to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Source NHS GMS was added to SPG7.
SPG7 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Red
SPG7 was created by ellenmcdonagh