Parkinson Disease and Complex Parkinsonism
Gene: EPHB4

EPHB4 (EPH receptor B4)
EnsemblGeneIds (GRCh38): ENSG00000196411
EnsemblGeneIds (GRCh37): ENSG00000196411
OMIM: 600011, Gene2Phenotype
EPHB4 is in 9 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: Error with tool trying to permanently delete this record (was C9ORF72) as C9orf72 already on panel (correct)
Created: 10 Aug 2017, 8:25 a.m.

Created: 10 Aug 2017, 8:25 a.m.

Panel version: 1.12

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This is under "C9orf72". This entry needs to be deleted.
Created: 15 Dec 2016, 9:32 a.m.

Created: 15 Dec 2016, 9:32 a.m.

Panel version: 0.211

Arianna Tucci (Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square)

Red List (low evidence)

Monoallelic expanded hexanucleotide repeat (GGGGCC) located between the noncoding exons 1a and 1b of the C9ORF72 gene cause autosomal dominant frontotemporal dementia and/or amyotrophic lateral sclerosis. The maximum size of the repeat in healthy controls is 23 units, whereas it was expanded to 700 to 1,600 (DeJesus-Hernandez et al., 2011) or 250 repeats (Renton et al., 2011) in patients. Loss-of-function and missense variants are not relevant in this gene
Created: 14 Dec 2016, 5:27 p.m.

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Created: 14 Dec 2016, 5:27 p.m.

Panel version: 0.161

Details

Sources

Expert Review Removed

Tags

curated_removed

OMIM

600011

Clinvar variants

Variants in EPHB4

Penetrance

Complete

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Panels with this gene

History Filter Activity

26 Feb 2021, Gel status: 0

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag curated_removed tag was added to gene: EPHB4.

4 Sep 2017, Gel status: 0