Genomics England
GMS Panels
Panels
Genes and Entities

RTN2

reticulon 2
OMIM: 603183
PanelMode of inheritanceDetails
3 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 12, autosomal dominant, 604805
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 6.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 12, autosomal dominant, OMIM:604805, distal hereditary motor neuropathy, MONDO:0018894, Lower limb spasticity, HP:0002061
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 5.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
distal hereditary motor neuropathy, MONDO:0018894