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Ciliopathies

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, 12:38 a.m. | Last Modified: 27 Mar 2021, 12:38 a.m.
Panel Version: 0.254

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 13, MIM# 614173; MONDO:0013608

Publications

Created: 27 Mar 2021, 12:38 a.m.
Last Modified: 27 Mar 2021, 12:38 a.m.
Panel version: 0.254

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 13, MIM# 614173
  • MONDO:0013608
OMIM
609863
Clinvar variants
Variants in TCTN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Mar 2021, 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).

27 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TCTN1 were changed from to Joubert syndrome 13, MIM# 614173; MONDO:0013608

27 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TCTN1 were set to

27 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TCTN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TCTN1 was added gene: TCTN1 was added to Ciliopathies_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TCTN1 was set to Unknown