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Intellectual disability

Gene: FBXW4

Amber List (moderate evidence)

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

2 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Tenuous association with SHFM, ID is not part of the phenotype.
Created: 2 Feb 2020, 8:46 a.m. | Last Modified: 2 Feb 2020, 8:46 a.m.
Panel Version: 3.0

Ellen McDonagh (Genomics England Curator)

I don't know

This is a possible DD gene for SPLIT-HAND/FOOT MALFORMATION TYPE 3, with the HPO term intellectual disability. Not associated with disease in OMIM. Literature search found publications related to split-hand/split food malformation and structural variants that include this gene. No results were found for this gene and ID key terms, therefore it is unclear whether there is evidence for an ID phenotype and variation in this gene.
Created: 13 Dec 2017, 9:46 p.m.

Phenotypes
SPLIT-HAND/FOOT MALFORMATION TYPE 3

Publications

Details

Sources
Phenotypes
  • SPLIT-HAND/FOOT MALFORMATION TYPE 3
OMIM
608071
Clinvar variants
Variants in FBXW4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

FBXW4 was added to Intellectual disability panel. Sources: Expert Review Amber

5 Jan 2018, Gel status: 2

Created

Ellen McDonagh (Genomics England Curator)

FBXW4 was created by Ellen McDonagh