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 - narrow panel


Level 2: Neurology
Version 8.76
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
    • 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 1.86

    		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 6.185
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 with onset in adulthood


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

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