PLP1

proteolipid protein 1
OMIM: 300401
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
SPASTIC PARAPLEGIA X-LINKED TYPE 2 312920, LEUKODYSTROPHY HYPOMYELINATING TYPE 1 312080
R-numbers: R60
Signed-off version 1.27
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spastic paraplegia 2, X-linked recessive, 312920
R-numbers: R61
Signed-off version 2.18
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spastic paraplegia 2, X-linked, 312920
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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)
R-numbers: R62
Signed-off version 1.25
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Pelizaeus-Merzbacher disease, 312080
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Spastic paraplegia 2, X-linked 312920 Edit, Pelizaeus-Merzbacher disease 312080