Familial Neural Tube Defects
Gene: TCTN2EnsemblGeneIds (GRCh38): ENSG00000168778
EnsemblGeneIds (GRCh37): ENSG00000168778
OMIM: 613846, Gene2Phenotype
TCTN2 is in 18 panels
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Meckel Syndrome
- OMIM
- 613846
- Clinvar variants
- Variants in TCTN2
- Penetrance
- Complete
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Limb disorders
- DDG2P
- Ocular coloboma
- Intellectual disability
- Retinal disorders
- Familial Neural Tube Defects
- Ductal plate malformation
- Neurological ciliopathies
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th Oct 2016: This panel was discussed internally, and as Neural tube defects (NTDs) are common multifactorial disorders caused by multiple genes and environmental factors, all genes on this panel should be considered red at this stage. Ready to promote to Version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)TCTN2 was added to Familial Neural Tube Defectspanel. Source: UKGTN
Set Mode of Inheritance, Added New Source
Olivia Niblock (Genomics England Curator)TCTN2 was added to Familial Neural Tube Defectspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Created
Olivia Niblock (Genomics England Curator)TCTN2 was created by oniblock
Added New Source
Olivia Niblock (Genomics England Curator)TCTN2 was added to Familial Neural Tube Defectspanel. Sources: Radboud University Medical Center, Nijmegen