Joubert syndrome

Gene: TCTN1

Red List (low evidence)

TCTN1 (tectonic family member 1)
EnsemblGeneIds (GRCh38): ENSG00000204852
EnsemblGeneIds (GRCh37): ENSG00000204852
OMIM: 609863, Gene2Phenotype
TCTN1 is in 20 panels

1 review

Penny Clouston (Oxford)

Green List (high evidence)

On current diagnostic panel; positive families within patient cohort. Evidence from the literature.
Created: 16 Mar 2016, 11:45 a.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

16 Mar 2016, Gel status: 0


Penny Clouston (Oxford)

TCTN1 was created by PennyC

16 Mar 2016, Gel status: 0

Added New Source

Penny Clouston (Oxford)

TCTN1 was added to Joubert syndromepanel. Sources: Expert Review