REEP1

receptor accessory protein 1
OMIM: 609139, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green REEP1 in Motor Neurone Disease Level 2: Neurology and neurodevelopmental disorders Version 1.24 Component of the following Super Panels: Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 31, autosomal dominant MIM#610250
Green REEP1 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011 Neuronopathy, distal hereditary motor, type VB MIM#614751 Spastic paraplegia 31, autosomal dominant MIM#610250
Green REEP1 in Hereditary Spastic Paraplegia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 1.11 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neurodegenerative disease - adult onset Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 31, autosomal dominant, 610250 MONDO:0012453
Green REEP1 in Hereditary Spastic Paraplegia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.76 Component of the following Super Panels: Hereditary Spastic Paraplegia Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 31, autosomal dominant, MIM# 610250
Green REEP1 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.48 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinal muscular atrophy, distal, autosomal recessive, 6, MIM#620011 Neuronopathy, distal hereditary motor, type VB MIM#614751 Spastic paraplegia 31, autosomal dominant MIM#610250