REEP1

receptor accessory protein 1
OMIM: 609139, Gene2Phenotype

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green REEP1 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.316	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Spastic paraplegia 31, autosomal dominant
Green REEP1 in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH NHS GMS London North GLH Illumina TruGenome Clinical Sequencing Services Expert Review Green Expert list UKGTN Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 31, autosomal dominant, 610250
Green REEP1 in Adult onset hereditary spastic paraplegia Level 2: Neurology Version 6.7 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Yorkshire and North East GLH Expert Review Green NHS GMS London North GLH Phenotypes Spastic paraplegia 31, autosomal dominant, 610250
Red REEP1 in Adult onset neurodegenerative disorder Level 2: Neurology Version 8.11 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 31, autosomal dominant
Amber REEP1 in Paediatric motor neuronopathies Level 2: Neurology Version 3.12 Latest signed off version: v3.9 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Radboud University Medical Center, Nijmegen Phenotypes ?Neuronopathy, distal hereditary motor, type VB, OMIM:614751
Green REEP1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory Expert list Phenotypes ?Neuronopathy, distal hereditary motor, type VB, 614751 Spastic paraplegia 31, autosomal dominant 610250 Cardiomyopathy
Red REEP1 in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Spastic paraplegia 31, autosomal dominant, 610250 ?Neuronopathy, distal hereditary motor, type VB, 614751
Green REEP1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources South West GLH Expert Review Green Emory Genetics Laboratory Expert list London North GLH NHS GMS South West GLH NHS GMS London North GLH Phenotypes Spastic paraplegia 31, autosomal dominant 610250 ?Neuronopathy, distal hereditary motor, type VB, 614751 Cardiomyopathy