Osteogenesis imperfecta
Gene: TCTN3
TCTN3 (tectonic family member 3)
EnsemblGeneIds (GRCh38): ENSG00000119977
EnsemblGeneIds (GRCh37): ENSG00000119977
OMIM: 613847, Gene2Phenotype
TCTN3 is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000119977
EnsemblGeneIds (GRCh37): ENSG00000119977
OMIM: 613847, Gene2Phenotype
TCTN3 is in 19 panels
2 reviews
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:05 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Disproportionate Short Stature
- Tags
- OMIM
- 613847
- Clinvar variants
- Variants in TCTN3
- Penetrance
- Complete
- 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
- Unexplained kidney failure in young people
- Ductal plate malformation
- Retinal disorders
- Renal ciliopathies
- Osteogenesis imperfecta
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Skeletal dysplasia
- Glaucoma (developmental)
- Structural eye disease
- Clefting
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: TCTN3.
16 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TCTN3 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory