TFG

PanelMode of inheritanceDetails
4 panels
R-numbers: R61
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 57, autosomal recessive, OMIM:615658
R-numbers: R78
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Hereditary motor and sensory neuropathy, Okinawa type, OMIM:604484, Spastic paraplegia 57, autosomal recessive, OMIM:615658
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 57, autosomal recessive, OMIM:615658
R-numbers: R41
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 57, autosomal recessive, OMIM:615658