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  2. Childhood onset dystonia, chorea or related movement disorder
  3. CEP104
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Childhood onset dystonia, chorea or related movement disorder

Gene: CEP104

Red List (low evidence)
CEP104 (centrosomal protein 104)
EnsemblGeneIds (GRCh38): ENSG00000116198
EnsemblGeneIds (GRCh37): ENSG00000116198
OMIM: 616690, Gene2Phenotype
CEP104 is in 9 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
  • Joubert syndrome 25
  • Joubert syndrome 25, 616781
OMIM
616690
Clinvar variants
Variants in CEP104
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 CEP104. Mode of inheritance for gene CEP104 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Joubert syndrome 25; Joubert syndrome 25, 616781 for gene: CEP104 Publications for gene CEP104 were changed from to 26477546

6 Dec 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: CEP104 was added gene: CEP104 was added to Childhood onset dystonia or chorea or related movement disorder. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: CEP104 was set to