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  3. FBXW4
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Hand and foot malformations

Gene: FBXW4

Red List (low evidence)
FBXW4 (F-box and WD repeat domain containing 4)
EnsemblGeneIds (GRCh38): ENSG00000107829
EnsemblGeneIds (GRCh37): ENSG00000107829
OMIM: 608071, Gene2Phenotype
FBXW4 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Large duplication involving multiple genes, including FBXW4 in multiple SHFM cases. No SNV or small indels reported in gene.
Created: 22 Sep 2021, 10:21 p.m. | Last Modified: 22 Sep 2021, 10:21 p.m.
Panel Version: 0.22

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Split-hand/foot malformation (SHFM)

Publications

Created: 22 Sep 2021, 10:21 p.m.
Last Modified: 22 Sep 2021, 10:21 p.m.
Panel version: 0.22

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Split-hand/foot malformation 3 syndrome 246560
OMIM
608071
Clinvar variants
Variants in FBXW4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Sep 2021, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: fbxw4 has been classified as Red List (Low Evidence).

22 Sep 2021, Gel status: 1

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: FBXW4 were set to

22 Sep 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: FBXW4 was added gene: FBXW4 was added to Hand and foot malformation. Sources: Expert list Mode of inheritance for gene: FBXW4 was set to Unknown Phenotypes for gene: FBXW4 were set to Split-hand/foot malformation 3 syndrome 246560