Renal ciliopathies

Gene: TCTN1

Green List (high evidence)

TCTN1 (tectonic family member 1)
EnsemblGeneIds (GRCh38): ENSG00000204852
EnsemblGeneIds (GRCh37): ENSG00000204852
OMIM: 609863, Gene2Phenotype
TCTN1 is in 21 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: 2 sisters with a homozygous variant reported in PMID: 21725307, a compound heterozygous case reported in PMID:26477546, a compound heterozygous case reported in PMID: 26489806. Promoted from red to green due to expert review and published cases.
Created: 28 Aug 2016, 7:59 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, 11:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert 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: TCTN1 was added gene: TCTN1 was added to Renal ciliopathies. Sources: Expert list,Expert Review Green Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TCTN1 were set to 20301500; 22693042; 26489806; 21725307; 26477546; 28631893 Phenotypes for gene: TCTN1 were set to Joubert syndrome