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  2. Renal Ciliopathies and Nephronophthisis
  3. TCTN1
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Renal Ciliopathies and Nephronophthisis

Gene: TCTN1

Red List (low 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)

Red List (low evidence)

At least 4 unrelated families reported with JBTS, mouse model. Renal involvement not reported.
Created: 27 Mar 2021, 12:35 a.m. | Last Modified: 17 Jul 2021, 8:09 a.m.
Panel Version: 0.278

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome 13, MIM# 614173

Publications

Created: 27 Mar 2021, 12:35 a.m.
Last Modified: 17 Jul 2021, 8:09 a.m.
Panel version: 0.278

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • KidGen_CilioNephronop v38.1.0
  • 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

17 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tctn1 has been classified as Red List (Low Evidence).

17 Jul 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jul 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TCTN1 were set to

17 Jul 2021, Gel status: 1

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 Jul 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: tctn1 has been classified as Red List (Low Evidence).

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 Renal ciliopathies and nephronophthisis_KidGen. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: TCTN1 was set to Unknown