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Rare multisystem ciliopathy disorders

Gene: TCTN2

Green List (high evidence)

TCTN2 (tectonic family member 2)
EnsemblGeneIds (GRCh38): ENSG00000168778
EnsemblGeneIds (GRCh37): ENSG00000168778
OMIM: 613846, Gene2Phenotype
TCTN2 is in 20 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases in OMIM and different variants reported for Joubert syndrome. One family report for Meckel syndrome.
Created: 28 Aug 2016, 8:02 a.m.

Penny Clouston (Oxford)

Green List (high evidence)

On current diagnostic panel; positive families within patient cohort. Evidence from the literature.
Created: 16 Mar 2016, 12:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome, Meckel-Gruber syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

26 Jan 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 by Alice Gardham on 26th January 2017

25 Nov 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TCTN2 was added to Rare multisystem ciliopathy disorderspanel. Source: Other

25 Nov 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

TCTN2 was added to Rare multisystem ciliopathy disorderspanel. Source: Orphanet

28 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Aug 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for TCTN2 were set to Joubert syndrome, Meckel-Gruber syndrome

28 Aug 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for TCTN2 were set to 25118024; 21565611

28 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

5 Apr 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TCTN2 was created by ellenmcdonagh

5 Apr 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TCTN2 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list