Ophthalmological ciliopathies

Gene: CEP41

Green List (high evidence)

CEP41 (centrosomal protein 41)
EnsemblGeneIds (GRCh38): ENSG00000106477
EnsemblGeneIds (GRCh37): ENSG00000106477
OMIM: 610523, Gene2Phenotype
CEP41 is in 22 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases in OMIM and different variants reported for Joubert syndrome 15.
Created: 27 Aug 2016, 10:17 a.m.

Penny Clouston (Oxford)

Green List (high evidence)

On current diagnostic panel; no positive families to date. Evidence from literature.
Created: 15 Mar 2016, 2:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Joubert syndrome


Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

8 Jul 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: CEP41 was added gene: CEP41 was added to Ophthalmological ciliopathies. Sources: Other,Expert list,Expert Review Green Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP41 were set to 22246503 Phenotypes for gene: CEP41 were set to Joubert syndrome 15