NEFL

neurofilament light
OMIM: 162280, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Red NEFL in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, MIM#617882
Green NEFL in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882 Charcot-Marie-Tooth disease, type 1F, MIM# 607734 Charcot-Marie-Tooth disease, type 2E 607684
Green NEFL 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, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Charcot Marie Tooth disease, type 2E, 607684 Charcot-Marie-Tooth disease, dominant intermediate G, 617882 HMSN Charcot Marie Tooth disease, type 1F, 607734
Green NEFL in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Charcot-Marie-Tooth disease
Green NEFL in Auditory Neuropathy Level 2: Neurology and neurodevelopmental disorders Version 1.1	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic auditory neuropathy spectrum disorder
Red NEFL in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category A gene Phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882 Charcot-Marie-Tooth disease, type 1F, MIM# 607734 Charcot-Marie-Tooth disease, type 2E 607684