PLP1

proteolipid protein 1
OMIM: 300401, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red PLP1 in Early onset dystonia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.152	review	Not set	Sources Emory Genetics Laboratory Phenotypes Dystonia
Green PLP1 in White matter disorders and cerebral calcification - narrow panel Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Spastic paraplegia 2, X-linked 312920 Edit Pelizaeus-Merzbacher disease 312080
Green PLP1 in Adult onset leukodystrophy Level 2: Neurology Version 6.8 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Yorkshire and North East GLH Phenotypes Pelizaeus-Merzbacher disease, 312080
Green PLP1 in Inherited white matter disorders Level 3: White matter disorders Level 2: Neurology and neurodevelopmental disorders Version 1.186	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Emory Genetics Laboratory UKGTN Expert list Eligibility statement prior genetic testing Other Phenotypes Pelizaeus-Merzbacher disease 312080 Spastic paraplegia 2, X-linked 312920 Edit
Green PLP1 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Expert list Phenotypes Spastic paraplegia 2, X-linked
Green PLP1 in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Yorkshire and North East GLH NHS GMS London North GLH Expert Review Green Expert list UKGTN Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 2, X-linked, 312920
Green PLP1 in Adult onset hereditary spastic paraplegia Level 2: Neurology Version 6.7 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 2, X-linked recessive, 312920
Red PLP1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Dystonia Spastic paraplegia 2, X-linked
Red PLP1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 2 LEUKODYSTROPHY HYPOMYELINATING TYPE 1
Green PLP1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SPASTIC PARAPLEGIA X-LINKED TYPE 2 312920 LEUKODYSTROPHY HYPOMYELINATING TYPE 1 312080
Amber PLP1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber London North GLH NHS GMS South West GLH Emory Genetics Laboratory Phenotypes Hereditary Neuropathies
Green PLP1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Emory Genetics Laboratory Phenotypes Pelizaeus-Merzbacher disease, 312080Spastic paraplegia 2, X-linked, 312920 LEUKODYSTROPHY HYPOMYELINATING TYPE 1 (HLD1)
Amber PLP1 in Adult onset dystonia, chorea or related movement disorder Level 2: Neurology Version 5.3 Latest signed off version: v5.0 (30 Apr 2025)	review	Not set	Sources Expert Review Amber NHS GMS South West GLH Phenotypes Pelizaeus-Merzbacher disease, 312080 Spastic paraplegia 2, X-linked, 312920 Dystonia
Green PLP1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green South West GLH Emory Genetics Laboratory London North GLH NHS GMS London North GLH NHS GMS South West GLH Phenotypes Hereditary Neuropathies
Amber PLP1 in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber South West GLH Phenotypes Spastic paraplegia 2, X-linked, 312920 Pelizaeus-Merzbacher disease, 312080