Ataxia and cerebellar anomalies - narrow panelGene: SPG7
The onset of the ataxia is generally in adulthood.
Created: 13 Sep 2020, 6:47 a.m. | Last Modified: 13 Sep 2020, 6:47 a.m.
Panel Version: 2.12
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Spastic paraplegia 7, autosomal recessive, MIM# 607259
Checked against super panel made up of the panel constituents. Ready to promote to version 1.
gene: SPG7 was added gene: SPG7 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPG7 were set to PMID: 25681447 Phenotypes for gene: SPG7 were set to Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia