Skeletal dysplasia
Gene: TCTN2EnsemblGeneIds (GRCh38): ENSG00000168778
EnsemblGeneIds (GRCh37): ENSG00000168778
OMIM: 613846, Gene2Phenotype
TCTN2 is in 18 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
one case with Meckel (poydactyly), >3 with Joubert (postaxial polydactyly); Review on behalf of Tracy LesterCreated: 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)
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: greenCreated: 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 613885Created: 1 Aug 2016, 8:15 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 2Created: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- Phenotypes
-
- Joubert syndrome 24 616654
- Meckel syndrome 8 613885
- OMIM
- 613846
- Clinvar variants
- Variants in TCTN2
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Limb disorders
- Ophthalmological ciliopathies
- Retinal disorders
- DDG2P
- Ocular coloboma
- Familial Neural Tube Defects
- Ductal plate malformation
- Neurological ciliopathies
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Joubert syndrome 24 616654; Meckel syndrome 8 613885 for gene: TCTN2
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)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TCTN2 were set to Meckel syndrome 8 613885; Joubert syndrome 24 616654
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for TCTN2 was changed to BIALLELIC, autosomal or pseudoautosomal
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
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
Added New Source
Sarah Leigh (Genomics England Curator)TCTN2 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
Added New Source
Sarah Leigh (Genomics England Curator)TCTN2 was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)TCTN2 was created by sleigh