Genomics England
GMS Panels
Panels
Genes and Entities

REEP1

receptor accessory protein 1
OMIM: 609139
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 31, autosomal dominant, 610250
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 31, autosomal dominant, 610250
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Spastic paraplegia 31, autosomal dominant 610250, ?Neuronopathy, distal hereditary motor, type VB, 614751, Cardiomyopathy