Genomics England

PLP1

proteolipid protein 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	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 Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.30	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Hereditary Neuropathies
Green in Hereditary spastic paraplegia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.13	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Spastic paraplegia 2, X-linked recessive, 312920
Green in Hereditary spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Spastic paraplegia 2, X-linked, 312920
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	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 Leukodystrophy, adult onset R-numbers: R62 Signed-off version 7.8	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Pelizaeus-Merzbacher disease, 312080
Green in White matter disorders and cerebral calcification - childhood onset Component of the following Super Panels: - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 8.6	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Phenotypes Spastic paraplegia 2, X-linked 312920 Edit, Pelizaeus-Merzbacher disease 312080