NEFH

neurofilament heavy
OMIM: 162230, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red NEFH in Optic neuropathy

Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.50
Latest signed off version: v2.2 (19 Feb 2020)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • London North GLH
Phenotypes
  • CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC, 616924

Red NEFH in Neurodegenerative disorders - adult onset


Version 2.201
Latest signed off version: v2.178 (5 Aug 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • susceptibility to amyotrophic lateral sclerosis (ALS)

Amber NEFH in Amyotrophic lateral sclerosis/motor neuron disease

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.39

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • susceptibility to amyotrophic lateral sclerosis (ALS)

Green NEFH in Hereditary neuropathy

Level 3: Motor and Sensory Disorders of the PNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.417

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2CC, 616924

Green NEFH in Hereditary neuropathy NOT PMP22 copy number


Version 1.64
Latest signed off version: v1.36 (5 Aug 2021)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • London North GLH
  • NHS GMS
  • NHS GMS
  • London North GLH
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2CC, 616924

Green NEFH in Severe Paediatric Disorders


Version 1.84

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Charcot-Marie-Tooth disease, axonal, type 2CC, 616924