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Skeletal dysplasia

Gene: TCTN2

Green List (high evidence)

TCTN2 (tectonic family member 2)
EnsemblGeneIds (GRCh38): ENSG00000168778
EnsemblGeneIds (GRCh37): ENSG00000168778
OMIM: 613846, Gene2Phenotype
TCTN2 is in 22 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

one case with Meckel (poydactyly), >3 with Joubert (postaxial polydactyly); Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Meckel syndrome 8 613885; Joubert syndrome 24 616654

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TCTN2; Initial rating suggestion: green
Created: 6 Mar 2019, 11:37 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least three variants reported in Joubert syndrome 24 616654 and one in Meckel syndrome 8 613885
Created: 1 Aug 2016, 8:15 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 17 Jun 2016, 8:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Meckel syndrome 8 613885; Joubert syndrome 24 616654

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

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Joubert syndrome 24 616654; Meckel syndrome 8 613885 for gene: TCTN2

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TCTN2. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

1 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

1 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TCTN2 were set to Meckel syndrome 8 613885; Joubert syndrome 24 616654

1 Aug 2016, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for TCTN2 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

TCTN2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

1 Aug 2016, Gel status: 4

Upload gene information

Sarah Leigh (Genomics England Curator)

TCTN2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN

18 May 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

TCTN2 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

TCTN2 was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TCTN2 was created by sleigh