Genomics England
GMS Panels
Panels
Genes and Entities

PLP1

proteolipid protein 1
OMIM: 300401
PanelMode of inheritanceDetails
6 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 4.4
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spastic paraplegia 2, X-linked recessive, 312920
Green
in Adult onset leukodystrophy
R-numbers: R62
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Pelizaeus-Merzbacher disease, 312080
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 5.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spastic paraplegia 2, X-linked, 312920
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
SPASTIC PARAPLEGIA X-LINKED TYPE 2 312920, LEUKODYSTROPHY HYPOMYELINATING TYPE 1 312080
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Pelizaeus-Merzbacher disease, 312080Spastic paraplegia 2, X-linked, 312920, LEUKODYSTROPHY HYPOMYELINATING TYPE 1 (HLD1)
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spastic paraplegia 2, X-linked 312920 Edit, Pelizaeus-Merzbacher disease 312080