Skeletal Dysplasia_Fetal
Gene: TCTN3
TCTN3 (tectonic family member 3)
EnsemblGeneIds (GRCh38): ENSG00000119977
EnsemblGeneIds (GRCh37): ENSG00000119977
OMIM: 613847, Gene2Phenotype
TCTN3 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000119977
EnsemblGeneIds (GRCh37): ENSG00000119977
OMIM: 613847, Gene2Phenotype
TCTN3 is in 17 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Three unrelated families reported with JBTS phenotype. Variants in this gene are associated with other ciliopathies as well (OFD and Mohr-Majewski).Created: 27 Mar 2021, 1:02 a.m. | Last Modified: 27 Mar 2021, 1:02 a.m.
Panel Version: 0.149
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 18, MIM# 614815; MONDO:0013896
Publications
Chirag Patel (Genetic Health Queensland)
3 unrelated families with Joubert syndrome reported since 2012.
No functional evidence.Created: 10 Dec 2019, 6:01 a.m. | Last Modified: 10 Dec 2019, 6:01 a.m.
Panel Version: 0.1150
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 18, OMIM #614815; Orofaciodigital syndrome IV, OMIM #258860
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Expert list
- Victorian Clinical Genetics Services
- Victorian Clinical Genetics Services
- Expert Review Green
- Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
- OMIM
- 613847
- Clinvar variants
- Variants in TCTN3
- Penetrance
- None
- Panels with this gene
-
- Joubert syndrome and other neurological ciliopathies
- Ciliopathies
- Mackenzie's Mission_Reproductive Carrier Screening
- Polydactyly
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Renal Ciliopathies and Nephronophthisis
- Intellectual disability syndromic and non-syndromic
- Regression
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Mendeliome
- Prepair 500+
- Ataxia - paediatric
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TCTN3 was added gene: TCTN3 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TCTN3 was set to Unknown