1. Genes and Genomic Entities
  2. FRMD4A

FRMD4A

FERM domain containing 4A
OMIM: 616305, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red FRMD4A in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.30
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819
    Red FRMD4A in Cerebellar hypoplasia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.87

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    Phenotypes
    • Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819
    Green FRMD4A in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.4
    Latest signed off version: v8.0 (12 Aug 2026)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819
    Red FRMD4A in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.10
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    Phenotypes
    • Agenesis of corpus callosum with facial anomalies and cerebellar ataxia