FBXW4

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

5 panels

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

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.35

review Not set
Sources
  • Emory Genetics Laboratory
Amber FBXW4 in Limb disorders


Level 2: Musculoskeletal
Version 7.22
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • UKGTN
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Amber
    • Emory Genetics Laboratory
    • Expert list
    Phenotypes
    • Split-hand/foot malformation 3, gene duplication syndrome, OMIM:246560
    • split hand-foot malformation 3, MONDO:0009525
    Amber FBXW4 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.38
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • UKGTN
    • Expert list
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Split-hand/foot malformation 3, gene duplication syndrome, OMIM:246560
    • split hand-foot malformation 3, MONDO:0009525
    Red FBXW4 in DDG2P


    Version 6.447
    Latest signed off version: v6.0 (30 Apr 2025)

    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


    Level 2: Developmental disorders
    Version 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    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