NEFL

neurofilament light
OMIM: 162280, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red NEFL in Arthrogryposis Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 6.1 Latest signed off version: v6.0 (1 May 2024)	review	Not set	Sources Expert Review Red Expert list
Amber NEFL in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.38 Latest signed off version: v4.37 (1 May 2024) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber UCL Phenotypes Nemaline Myopathy Tags watchlist
Green NEFL in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.478	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources South West GLH NHS GMS London North GLH Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Charcot Marie Tooth disease, type 2E, 607684 Charcot Marie Tooth disease, type 1F, 607734 Charcot Marie Tooth disease, type 1F, 607734 Charcot-Marie-Tooth disease, dominant intermediate G, 617882
Red NEFL in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.11 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Charcot Marie Tooth disease, type 2E, 607684 Charcot Marie Tooth disease, type 1F, 607734
Green NEFL in Hereditary neuropathy or pain disorder Version 4.8 Latest signed off version: v4.0 (1 May 2024)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen South West GLH Expert Review Green UKGTN Emory Genetics Laboratory Expert list London North GLH Illumina TruGenome Clinical Sequencing Services NHS GMS South West GLH NHS GMS London North GLH Phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, 617882 Charcot Marie Tooth disease, type 1F, 607734 Charcot Marie Tooth disease, type 2E, 607684
Green NEFL in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, 617882 Charcot-Marie-Tooth disease, type 2E, 607684 Charcot-Marie-Tooth disease, type 1F, 607734