1. Genes and Genomic Entities
  2. FBXO31

FBXO31

F-box protein 31
OMIM: 609102, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Amber FBXO31 in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 8.44
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
Tags
  • Q1_26_promote_green
Green FBXO31 in Intellectual disability


Level 2: Developmental disorders
Version 9.355
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
    • ?Mental retardation, autosomal recessive 45, OMIM:615979
    • Intellectual disability, autosomal dominant