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Prepair 1000+

Gene: TCTN3

Green List (high evidence)

TCTN3 (tectonic family member 3)
EnsemblGeneIds (GRCh38): ENSG00000119977
EnsemblGeneIds (GRCh37): ENSG00000119977
OMIM: 613847, Gene2Phenotype
TCTN3 is in 17 panels

1 review

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Joubert syndrome and related disorders are a group of ciliopathies characterized by mid-hindbrain malformation, developmental delay, hypotonia, oculomotor apraxia, and breathing abnormalities. Variants in this gene are associated with other ciliopathies.

HGNC approved symbol/name: TCTN3
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? N
Gene reported in >3 independent families
Created: 7 Feb 2025, 2:17 a.m. | Last Modified: 7 Feb 2025, 2:17 a.m.
Panel Version: 1.1460

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 18, MIM# 614815; MONDO:0013896; Orofaciodigital syndrome IV, MIM# 258860; MONDO:0009794

Publications

History Filter Activity

7 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tctn3 has been classified as Green List (High Evidence).

7 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TCTN3 were changed from Joubert syndrome 18, 614815 (3) to Joubert syndrome 18, MIM# 614815; MONDO:0013896; Orofaciodigital syndrome IV, MIM# 258860; MONDO:0009794

7 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TCTN3 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Joubert syndrome 18, 614815 (3) for gene: TCTN3

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TCTN3 was added gene: TCTN3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN3 were set to Joubert syndrome 18, 614815 (3)