Hereditary Spastic Paraplegia - paediatric
Gene: IFRD1
A variant segregated with slowly progressing gait ataxia, pyramidal tract signs and peripheral neuropathy in three siblings from a single Chinese family. No functional analyses of the variant has been conducted. The variant (c.514 A>G, p.I172V) is too common (0.3%) for a dominant condition in the African population in gnomAD.Created: 19 Apr 2020, 10:42 a.m. | Last Modified: 19 Apr 2020, 10:42 a.m.
Panel Version: 0.73
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hereditary spastic paraplegia; peripheral neuropathy; ataxia
Publications
Gene: ifrd1 has been classified as Red List (Low Evidence).
Tag refuted tag was added to gene: IFRD1.
gene: IFRD1 was added gene: IFRD1 was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: IFRD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFRD1 were set to 29362493 Phenotypes for gene: IFRD1 were set to autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia