Inborn errors of metabolismGene: SPG7
Comment on mode of inheritance: See reviewer's comment. Confirmed on OMIM.
Created: 12 Feb 2016, 5:06 p.m.
Comment on list classification: Both reviewers agree this gene should be promoted from red to green.
Created: 12 Feb 2016, 5:05 p.m.
Also, some limited evidence of monoallelic pathogenicity in some cases
Created: 27 Sep 2015, 5:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to SPG7. Source London North GLH was added to SPG7.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Miscellaneous disorders/unknown function (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Spastic paraplegia 7, autosomal recessive, 607259; Disorders of mitochondrial DNA maintenance and integrity for gene: SPG7 Publications for gene SPG7 were changed from to 27604308
gene: SPG7 was added gene: SPG7 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: SPG7 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive, 607259; Disorders of mitochondrial DNA maintenance and integrity