Rare multisystem ciliopathy disorders
Gene: TCTN1EnsemblGeneIds (GRCh38): ENSG00000204852
EnsemblGeneIds (GRCh37): ENSG00000204852
OMIM: 609863, Gene2Phenotype
TCTN1 is in 18 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: 2 sisters with a homozygous variant reported in PMID: 21725307, a compound heterozygous case reported in PMID:26477546, a compound heterozygous case reported in PMID: 26489806. Promoted from red to green due to expert review and published cases.
Created: 28 Aug 2016, 7:59 a.m.
Penny Clouston (Oxford)
On current diagnostic panel; positive families within patient cohort. Evidence from the literature.Created: 16 Mar 2016, 11:45 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Joubert syndrome
- OMIM
- 609863
- Clinvar variants
- Variants in TCTN1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Retinal disorders
- DDG2P
- Ocular coloboma
- Ductal plate malformation
- Neurological ciliopathies
- Cystic kidney disease
- Structural eye disease
- Skeletal dysplasia
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Rare multisystem ciliopathy disorders
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for TCTN1 were set to 20301500; 21725307; 22693042; 26477546; 26489806;28631893
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 by Alice Gardham on 26th January 2017
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 TCTN1 were set to Joubert syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for TCTN1 were set to 20301500; 21725307; 22693042;26477546;26489806
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)TCTN1 was added to Rare multisystem ciliopathy disorderspanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)TCTN1 was created by ellenmcdonagh