Renal ciliopathies

Gene: TCTN2

Green List (high evidence)

TCTN2 (tectonic family member 2)
EnsemblGeneIds (GRCh38): ENSG00000168778
EnsemblGeneIds (GRCh37): ENSG00000168778
OMIM: 613846, Gene2Phenotype
TCTN2 is in 21 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. One family report for Meckel syndrome.
Created: 28 Aug 2016, 8:02 a.m.

Penny Clouston (Oxford)

Green List (high evidence)

On current diagnostic panel; positive families within patient cohort. Evidence from the literature.
Created: 16 Mar 2016, 12:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome, Meckel-Gruber syndrome

Publications

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

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: TCTN2 was added gene: TCTN2 was added to Renal ciliopathies. Sources: Other,Expert list,Expert Review Green,Orphanet Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN2 were set to 25118024; 21565611 Phenotypes for gene: TCTN2 were set to Meckel syndrome; Joubert syndrome 24; Joubert syndrome, Meckel-Gruber syndrome