Intellectual disability update Jan 2018
Gene: GON4L

GON4L (gon-4 like)
EnsemblGeneIds (GRCh38): ENSG00000116580
EnsemblGeneIds (GRCh37): ENSG00000116580
OMIM: 610393, Gene2Phenotype
GON4L is in 3 panels

1 review

Sarah Leigh (Genomics England Curator)

Not associated with phenotype in OMIM.
Apparently 2 causative variants in one case in novel (candidate) gene for intellectual disability (Najmabadi 2011 PMID 21937992).
Candidate ID gene (Grozeva 2015 PMID 26350204) as an ID candidate gene (Gilessen 2014 PMID 24896178).

Created: 5 Mar 2018, 3:27 p.m.

Created: 5 Mar 2018, 3:27 p.m.

Panel version: 0.331

Details

Sources

Expert Review Red

OMIM

610393

Clinvar variants

Variants in GON4L

Penetrance

None

Panels with this gene

History Filter Activity

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

GON4L was added to Intellectual disability update Jan 2018 panel. Sources: Expert Review Red

18 Dec 2017, Gel status: 1

Created