1. Genes and Genomic Entities
  2. FBXW4

FBXW4

F-box and WD repeat domain containing 4
OMIM: 608071, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Red FBXW4 in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.34

review Not set
Sources
  • Emory Genetics Laboratory
Red FBXW4 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.57
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review Unknown
    Sources
    • Expert Review Red
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Split-hand/foot malformation 3 syndrome 246560
    Tags
    • currently-ngs-unreportable
    Red FBXW4 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • SPLIT-HAND/FOOT MALFORMATION TYPE 3 246560
    Red FBXW4 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review Not set
    Sources
    • Expert Review Red
    Phenotypes
    • SPLIT-HAND/FOOT MALFORMATION TYPE 3