Inherited white matter disorders

Gene: SPG7

Green List (high evidence)

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

• 9635427
• 16534102
• 17646629
• 18200586
• 20186691
• 22571692

Green List (high evidence)

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

• 22571692, 17646629

Variants in this GENE are reported as part of current diagnostic practice