Skeletal dysplasia
Gene: TCTN2
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
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.
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.
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
Added phenotypes Joubert syndrome 24 616654; Meckel syndrome 8 613885 for gene: TCTN2
Source NHS GMS was added to TCTN2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for TCTN2 were set to Meckel syndrome 8 613885; Joubert syndrome 24 616654
Mode of inheritance for TCTN2 was changed to BIALLELIC, autosomal or pseudoautosomal
TCTN2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
TCTN2 was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
TCTN2 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
TCTN2 was added to Unexplained skeletal dysplasiapanel. Sources:
TCTN2 was created by sleigh