Renal ciliopathies

Gene: CEP104

Green List (high evidence)

CEP104 (centrosomal protein 104)
EnsemblGeneIds (GRCh38): ENSG00000116198
EnsemblGeneIds (GRCh37): ENSG00000116198
OMIM: 616690, Gene2Phenotype
CEP104 is in 11 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Mutations identified in three unrelated patients with Joubert. Recognised on G2P
Created: 25 Jan 2017, 12:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Joubert syndrome 25 616781



History Filter Activity

10 Jul 2019, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: CEP104 was added gene: CEP104 was added to Renal ciliopathies. Sources: Other,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP104 were set to 26477546 Phenotypes for gene: CEP104 were set to Joubert syndrome 25, 616781; Joubert syndrome 25