Hereditary spastic paraplegia - childhood onset

Gene: RNF170

No list

RNF170 (ring finger protein 170)
EnsemblGeneIds (GRCh38): ENSG00000120925
EnsemblGeneIds (GRCh37): ENSG00000120925
OMIM: 614649, Gene2Phenotype
RNF170 is in 7 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Four families reported with a complicated HSP phenotype.
Sources: Expert list
Created: 20 Sep 2020, 6:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary spastic paraplegia

Publications

History Filter Activity

20 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: RNF170 was added gene: RNF170 was added to Hereditary spastic paraplegia - childhood onset. Sources: Expert list Mode of inheritance for gene: RNF170 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNF170 were set to 31636353 Phenotypes for gene: RNF170 were set to Hereditary spastic paraplegia Review for gene: RNF170 was set to GREEN