Hereditary Spastic Paraplegia - paediatric
Gene: RTN2EnsemblGeneIds (GRCh38): ENSG00000125744
EnsemblGeneIds (GRCh37): ENSG00000125744
OMIM: 603183, Gene2Phenotype
RTN2 is in 4 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
At least 5 unrelated families reported. Variable age of onset from childhood to early adulthood.
Sources: Expert listCreated: 12 Jun 2020, 1:18 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia 12, autosomal dominant, MIM# 604805
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Spastic paraplegia 12, autosomal dominant, 604805
- MONDO:0011489
- OMIM
- 603183
- Clinvar variants
- Variants in RTN2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: RTN2 were changed from Spastic paraplegia 12, autosomal dominant, MIM# 604805 to Spastic paraplegia 12, autosomal dominant, 604805; MONDO:0011489
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rtn2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: rtn2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: RTN2 was added gene: RTN2 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list Mode of inheritance for gene: RTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RTN2 were set to 22232211; 27165006 Phenotypes for gene: RTN2 were set to Spastic paraplegia 12, autosomal dominant, MIM# 604805 Review for gene: RTN2 was set to GREEN