Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: TCTN2

Green List (high evidence)

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

1 review

Clare Hunt (Victorian Clinical Genetics Services)

Green List (high evidence)

TCTN2, HGNC:25774. Meckel-Gruber syndrome is a severe autosomal recessive ciliopathy classically defined by the triad of encephalocele, polydactyly, and renal and biliary ductal dysplasia. Severe, congenital onset. Biallelic variants in TCTN2 thought to cause around 1% of Meckel phenotypes (Meckel syndrome 8). Zhang et al. 2020 PMID:32655147 describes two novel nonsense variants in a fetus. Philipsborn et al. 2021 PMID:33590725 describes a TCTN2 Founder mutation; among Jews of Ethiopian and Yemenite origin.
From OMIM; in 6 patients from 3 unrelated families with Joubert syndrome-24 (JBTS24; 616654), Sang et al. (2011) identified 3 different homozygous mutations in the TCTN2 gene (613846.0002-613836.0004).
Created: 3 Feb 2025, 5:30 a.m. | Last Modified: 3 Feb 2025, 5:30 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
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

History Filter Activity

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tctn2 has been classified as Green List (High Evidence).

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TCTN2 were changed from Joubert syndrome 24 to Joubert syndrome 24, MIM# 616654; MONDO:0014724; Meckel syndrome 8, MIM# 613885; MONDO:0013482

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TCTN2 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Joubert syndrome 24 for gene: TCTN2

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: TCTN2 was added gene: TCTN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN2 were set to Joubert syndrome 24