Genomics England
GMS Panels
Panels
Genes and Entities

DDHD1

DDHD domain containing 1
OMIM: 614603
PanelMode of inheritanceDetails
3 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 28, autosomal recessive, 609340
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 28, autosomal recessive, 609340
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HEREDITARY SPASTIC PARAPLEGIA 615030