1. Genes and Genomic Entities
  2. FBXO31

FBXO31

F-box protein 31
OMIM: 609102, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber FBXO31 in Malformations of cortical development


Level 2: Neurology
Version 7.58
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • ?Intellectual developmental disorder, autosomal recessive 45, OMIM:615979
    Tags
    • Q2_26_promote_green
    Amber FBXO31 in Childhood onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 8.51
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • Spasticity, HP:0001257
    • ?Intellectual developmental disorder, autosomal recessive 45, OMIM:615979
    Tags
    • Q1_26_promote_green
    Green FBXO31 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.397
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • ?Intellectual developmental disorder, autosomal recessive 45, OMIM:615979
    Tags
    • Q2_26_MOI