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

Fetal anomalies

Gene: TCTN1

Green List (high evidence)

TCTN1 (tectonic family member 1)
EnsemblGeneIds (GRCh38): ENSG00000204852
EnsemblGeneIds (GRCh37): ENSG00000204852
OMIM: 609863, Gene2Phenotype
TCTN1 is in 11 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 4 unrelated families reported, mouse model.
Created: 27 Mar 2021, 12:35 a.m. | Last Modified: 27 Mar 2021, 12:35 a.m.
Panel Version: 0.142

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 13, MIM# 614173

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 13, MIM# 614173
OMIM
609863
Clinvar variants
Variants in TCTN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

23 Feb 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tctn1 has been classified as Green List (High Evidence).

23 Feb 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TCTN1 were changed from Joubert syndrome 13 614173; JOUBERT SYNDROME AND RELATED DISORDERS to Joubert syndrome 13, MIM# 614173

23 Feb 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TCTN1 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TCTN1 was added gene: TCTN1 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN1 were set to Joubert syndrome 13 614173; JOUBERT SYNDROME AND RELATED DISORDERS