Childhood onset dystonia, chorea or related movement disorder
Gene: CEP290

CEP290 (centrosomal protein 290)
EnsemblGeneIds (GRCh38): ENSG00000198707
EnsemblGeneIds (GRCh37): ENSG00000198707
OMIM: 610142, Gene2Phenotype
CEP290 is in 23 panels

1 review

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Created: 9 Jul 2019, 4:24 p.m.
Last Modified: 9 Jul 2019, 4:24 p.m.
Panel version: Imported from GMS Neurology specialist test group-Movement disorders - childhood onset-LNGLH_v2 panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

PanelApp
Expert Review Red
London North GLH

Phenotypes

611755
610189
Senior-Loken syndrome
611134
610188
Joubert syndrome 5
Senior-Loken syndrome 6
Meckel syndrome
Meckel syndrome 4
Joubert syndrome with oculorenal defect

OMIM

610142

Clinvar variants

Variants in CEP290

Penetrance

None

Publications

Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

Source PanelApp was added to CEP290. Mode of inheritance for gene CEP290 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes 611755; 610189; Senior-Loken syndrome; 611134; 610188; Joubert syndrome 5; Senior-Loken syndrome 6; Meckel syndrome; Meckel syndrome 4; Joubert syndrome with oculorenal defect for gene: CEP290 Publications for gene CEP290 were changed from to 18327255; 20690115