Hereditary Spastic Paraplegia - paediatric
Gene: RNF170EnsemblGeneIds (GRCh38): ENSG00000120925
EnsemblGeneIds (GRCh37): ENSG00000120925
OMIM: 614649, Gene2Phenotype
RNF170 is in 3 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 85, autosomal recessive, MIM# 619686
Bryony Thompson (Royal Melbourne Hospital)
Four families reported with a complicated HSP phenotype.
Sources: LiteratureCreated: 19 Apr 2020, 9:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary spastic paraplegia
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Spastic paraplegia 85, autosomal recessive, MIM# 619686
- OMIM
- 614649
- Clinvar variants
- Variants in RNF170
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RNF170 were changed from Hereditary spastic paraplegia to Spastic paraplegia 85, autosomal recessive, MIM# 619686
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rnf170 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: rnf170 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: RNF170 was added gene: RNF170 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Literature 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