Ductal plate malformation
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
0 reviews
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Joubert syndrome 18 (614815)
- Orofaciodigital syndrome IV (258860)
- Tags
- OMIM
- 613847
- Clinvar variants
- Variants in TCTN3
- Penetrance
- None
- Panels with this gene
-
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Skeletal dysplasia
- Clefting
- Ocular coloboma
- Structural eye disease
- Osteogenesis imperfecta
- Intellectual disability
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Childhood onset dystonia, chorea or related movement disorder
- Renal ciliopathies
- DDG2P
- Retinal disorders
- Limb disorders
- Glaucoma (developmental)
- Rare multisystem ciliopathy disorders
- Fetal anomalies
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.
30 Nov 2018, Gel status: 0
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Bill Griffiths: I have a patient with OFD1 and
12 Nov 2018, Gel status: 0
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to TCTN3. Rating Changed from Green List (high evidence) to No List (delete)
6 Nov 2018, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TCTN3 was added gene: TCTN3 was added to Ductal plate malformation (DPM). Sources: UKGTN,Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTN3 were set to Joubert syndrome 18 (614815); Orofaciodigital syndrome IV (258860)