RTN2

reticulon 2
OMIM: 603183, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green RTN2 in Hereditary spastic paraplegia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.311	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert list Illumina TruGenome Clinical Sequencing Services Phenotypes Spastic paraplegia 12, autosomal dominant, OMIM:604805 distal hereditary motor neuropathy, MONDO:0018894 Lower limb spasticity, HP:0002061
Green RTN2 in Childhood onset hereditary spastic paraplegia Version 4.43 Latest signed off version: v4.0 (22 Mar 2023)	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 Radboud University Medical Center, Nijmegen Phenotypes Spastic paraplegia 12, autosomal dominant, OMIM:604805 distal hereditary motor neuropathy, MONDO:0018894 Lower limb spasticity, HP:0002061 Tags Q2_24_MOI Q2_24_NHS_review
Green RTN2 in Adult onset hereditary spastic paraplegia Version 3.21 Latest signed off version: v3.14 (31 Jul 2023)	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 12, autosomal dominant, 604805
Red RTN2 in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	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 12, autosomal dominant
Red RTN2 in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.536 Latest signed off version: v5.0 (22 Mar 2023) 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 12, autosomal dominant, 604805
Amber RTN2 in Hereditary neuropathy or pain disorder Version 3.94 Latest signed off version: v3.24 (15 May 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes distal hereditary motor neuropathy, MONDO:0018894 Tags Q2_24_promote_green
Green RTN2 in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Spastic paraplegia 12, autosomal dominant, 604805