Inherited white matter disorders
Gene: SPG7
Associated with relevant phenotype in OMIM and as definitive Gen2Phen gene. 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 pseudoautosomal.Created: 11 Apr 2023, 11:25 a.m. | Last Modified: 11 Apr 2023, 11:57 a.m.
Panel Version: 1.173
Comment on list classification: This gene is awaiting curator evaluation and rating.Created: 19 Dec 2018, 1:04 p.m.
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications
White matter abnormalities are part of the phenotype.Created: 24 Jul 2018, 10:55 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 7, autosomal recessive, MIM#607259
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene: SPG7 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: SPG7 were set to 22571692, 17646629
Gene: spg7 has been classified as Green List (High Evidence).
Phenotypes for gene: SPG7 were changed from Spastic paraplegia 7, autosomal recessive, MIM#607259 to Spastic paraplegia 7, autosomal recessive, OMIM:607259; hereditary spastic paraplegia 7, MONDO:0011803
Gene: spg7 has been classified as Red List (Low Evidence).
SPG7 was added to Inherited white matter disorders panel. Sources: Expert list
SPG7 was created by Zornitza Stark