Rare multisystem ciliopathy disorders
Gene: TCTN3EnsemblGeneIds (GRCh38): ENSG00000119977
EnsemblGeneIds (GRCh37): ENSG00000119977
OMIM: 613847, Gene2Phenotype
TCTN3 is in 19 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review and >3 unrelated cases in OMIM and different variants reported for orofaciodigital syndrome. 2 siblings with Joubert syndrome with a homozygous variant reported in OMIM, with additional cases reported in PMID: 25118024.
Created: 28 Aug 2016, 8:08 a.m.
Penny Clouston (Oxford)
On current diagnostic panel; no positive families in patient cohort to date. Evidence in literature.Created: 16 Mar 2016, 12:33 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome; Orofaciodigital syndrome IV
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Other
- Expert Review Green
- Expert list
- Phenotypes
-
- Orofaciodigital syndrome IV
- Joubert syndrome
- Meckel-Gruber
- Mohr-Majewski syndrome
- Joubert syndrome 18
- OMIM
- 613847
- Clinvar variants
- Variants in TCTN3
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Structural eye disease
- Skeletal dysplasia
- Ophthalmological ciliopathies
- Neurological ciliopathies
- Limb disorders
- Intellectual disability
- DDG2P
- Childhood onset dystonia, chorea or related movement disorder
- Fetal anomalies
- Ocular coloboma
- Retinal disorders
- Unexplained kidney failure in young people
- Ductal plate malformation
- Renal ciliopathies
- Osteogenesis imperfecta
- Rare multisystem ciliopathy disorders
- Cystic kidney disease
- Clefting
- Glaucoma (developmental)
History Filter Activity
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
Added New Source
Ellen McDonagh (Genomics England Curator)TCTN3 was added to Rare multisystem ciliopathy disorderspanel. Source: Other
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for TCTN3 were set to Orofaciodigital syndrome IV;Joubert syndrome;Meckel-Gruber; Mohr-Majewski syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TCTN3 were set to 25118024;22883145
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)TCTN3 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)TCTN3 was created by ellenmcdonagh