Renal Ciliopathies and Nephronophthisis
Gene: TCTN2

TCTN2 (tectonic family member 2)
EnsemblGeneIds (GRCh38): ENSG00000168778
EnsemblGeneIds (GRCh37): ENSG00000168778
OMIM: 613846, Gene2Phenotype
TCTN2 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 families reported with JBTS phenotype, and 3 with Meckel phenotype; mouse model. Renal abnormalities are part of the Meckel phenotype.
Created: 27 Mar 2021, 12:49 a.m. | Last Modified: 17 Jul 2021, 8:14 a.m.

Panel Version: 0.282

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482

Publications

Created: 27 Mar 2021, 12:49 a.m.
Last Modified: 17 Jul 2021, 8:14 a.m.
Panel version: Imported from Joubert syndrome and other neurological ciliopathies panel version 0.146

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
KidGen_CilioNephronop v38.1.0
Victorian Clinical Genetics Services

Phenotypes

Joubert syndrome 24, MIM# 616654
MONDO:0014724
Meckel syndrome 8, MIM# 613885
MONDO:0013482

OMIM

613846

Clinvar variants

Variants in TCTN2

Penetrance

None

Publications

Panels with this gene