NFASC

neurofascin
OMIM: 609145, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green NFASC in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356
    • neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698
    Green NFASC in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.344

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356
    • neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698
    Red NFASC in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Neurodevelopmental disorder with central and peripheral motor dysfunction
    Green NFASC in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356
    • neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:003269
    Green NFASC in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356