FBXW4

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

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 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 8.6 Latest signed off version: v8.0 (6 May 2026) 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 9.9 Latest signed off version: v9.0 (6 May 2026) 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 7.1 Latest signed off version: v7.0 (6 May 2026) 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 10.17 Latest signed off version: v10.0 (6 May 2026) 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