Skeletal dysplasiaGene: FBXW4
Comment when marking as ready: Associated with phenotype in G2P. Several rearrangements encompassing the FBXW4 reported in this phenotype.
Created: 11 Jul 2016, 2:25 p.m.
Comment on mode of pathogenicity: Molecular rearrangements encompassing this locus reported
Created: 11 Jul 2016, 2:24 p.m.
Created: 17 Jun 2016, 8:03 a.m.
Mode of inheritance
Split-hand/foot malformation 3 syndrome 246560
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Red List (Low Evidence).
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for FBXW4 was changed to Other - please provide details in the comments
Mode of inheritance for FBXW4 was changed to Unknown
Phenotypes for FBXW4 were set to Split-hand/foot malformation 3 syndrome 246560
Publications for FBXW4 were set to 19584065; 18067070
FBXW4 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN
FBXW4 was created by sleigh
FBXW4 was added to Unexplained skeletal dysplasiapanel. Sources: