PanelApp
  1. Genes and Genomic Entities
  2. NFASC

NFASC

neurofascin
OMIM: 609145, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green NFASC in Mendeliome


Version 2.588

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with central and peripheral motor dysfunction
  • OMIM #618356

Green NFASC in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.145

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with central and peripheral motor dysfunction
  • OMIM #618356

Amber NFASC in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.101

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698