Joubert syndrome

Gene: CEP41

Red List (low evidence)

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

1 review

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

17 Nov 2016, Gel status: 0

Approved Gene

Alice Gardham (Genomics England)

This proposed gene was validated and added to this panel

15 Mar 2016, Gel status: 0


Penny Clouston (Oxford)

CEP41 was created by PennyC

15 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

CEP41 was added to Joubert syndromepanel. Sources: Expert Review