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Intellectual disability

Gene: FBXO8

Red List (low evidence)

FBXO8 (F-box protein 8)
EnsemblGeneIds (GRCh38): ENSG00000164117
EnsemblGeneIds (GRCh37): ENSG00000164117
OMIM: 605649, Gene2Phenotype
FBXO8 is in 1 panel

1 review

Ellen McDonagh (Genomics England Curator)

Red List (low evidence)

4 gene deletion identifed in a patient with bilateral cleft of the primary palate, duplicated triphalangeal thumbs, and a patent foramen ovale and moderate developmental delay.
Created: 13 Dec 2017, 9:46 p.m.

Phenotypes
moderate developmental delay

Publications

Details

Sources
Phenotypes
  • moderate developmental delay
OMIM
605649
Clinvar variants
Variants in FBXO8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

FBXO8 was added to Intellectual disability panel. Sources: Expert Review Red

5 Jan 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

FBXO8 was created by Ellen McDonagh