1. Panels
  2. Renal ciliopathies
  3. TCTN1
STRs in panel
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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 18 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.
Created: 28 Aug 2016, 7:56 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version 0.95

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

Created: 16 Mar 2016, 11:45 a.m.

Panel version: Imported from Rare multisystem ciliopathy disorders panel version Imported from "Joubert syndrome" panel version 0.31

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