This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: TCTN2
TCTN2 (tectonic family member 2)
EnsemblGeneIds (GRCh38): ENSG00000168778
EnsemblGeneIds (GRCh37): ENSG00000168778
OMIM: 613846, Gene2Phenotype
TCTN2 is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000168778
EnsemblGeneIds (GRCh37): ENSG00000168778
OMIM: 613846, Gene2Phenotype
TCTN2 is in 18 panels
1 review
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, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 8 613885; Joubert syndrome 24 616654
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Joubert syndrome 24 616654
- Meckel syndrome 8 613885
- OMIM
- 613846
- Clinvar variants
- Variants in TCTN2
- Penetrance
- None
- Panels with this gene
-
- Ophthalmological ciliopathies
- Neurological ciliopathies
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Ocular coloboma
- Limb disorders
- Intellectual disability
- Familial Neural Tube Defects
- Ductal plate malformation
- Retinal disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
- Skeletal dysplasia
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Structural eye disease
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: TCTN2 was added gene: TCTN2 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN2 were set to Joubert syndrome 24 616654; Meckel syndrome 8 613885