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Intellectual disability

Gene: TCTN1

Red List (low evidence)

TCTN1 (tectonic family member 1)
EnsemblGeneIds (GRCh38): ENSG00000204852
EnsemblGeneIds (GRCh37): ENSG00000204852
OMIM: 609863, Gene2Phenotype
TCTN1 is in 20 panels

4 reviews

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
JOUBERT SYNDROME AND RELATED DISORDERS

Publications

  • 0

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Currently Insufficient cases for inclusion on panel. Phenotype of TCTN1 patients appears less severe than patients harbouring TCTN2 or TCTN3 variants.
Created: 31 Oct 2017, 9:24 a.m.

Phenotypes
Joubert syndrome 13, 614173; intellectual disability

Publications

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Single family reported. Require further data before diagnostic grade
Created: 8 Feb 2016, 1:36 a.m.
Comment on list classification: Single family reported. Require further data before diagnostic grade
Created: 8 Feb 2016, 1:36 a.m.

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene TCTN1 was set to ['25118024', ' 22693042 ']

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

8 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TCTN1 was added to Intellectual disabilitypanel. Sources: Expert Review Amber

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TCTN1 was created by ellenmcdonagh