Genomics England
GMS Panels
Panels
Genes and Entities

AP5Z1

adaptor related protein complex 5 zeta 1 subunit
OMIM: 613653
PanelMode of inheritanceDetails
4 panels
Green
in Adult onset hereditary spastic paraplegia
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic Paraplegia, Recessive, Spastic paraplegia 48, autosomal recessive, 613647, Spastic paraplegia 48, autosomal recessive
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 48, autosomal recessive, OMIM:613647
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 48, autosomal recessive, OMIM:613647, hereditary spastic paraplegia 48, MONDO:0013342
Green
in Retinal disorders
R-numbers: R32
Signed-off version 9.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Lysosomal macular dystrophy