Renal ciliopathies and nephronophthisis_KidGen_VCGS
Gene: TCTN3EnsemblGeneIds (GRCh38): ENSG00000119977
EnsemblGeneIds (GRCh37): ENSG00000119977
OMIM: 613847, Gene2Phenotype
TCTN3 is in 19 panels
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Details
- Mode of Inheritance
- Unknown
- Sources
-
- KidGen_CilioNephronop v38.1.0
- Expert Review Green
- OMIM
- 613847
- Clinvar variants
- Variants in TCTN3
- Penetrance
- None
- Panels with this gene
-
- Clefting
- Ophthalmological ciliopathies
- Childhood onset dystonia, chorea or related movement disorder
- Ocular coloboma
- Skeletal dysplasia
- Retinal disorders
- Structural eye disease
- Neurological ciliopathies
- Cystic kidney disease
- Osteogenesis imperfecta
- Unexplained kidney failure in young people
- Ductal plate malformation
- Intellectual disability
- Fetal anomalies
- DDG2P
- Glaucoma (developmental)
- Limb disorders
- Renal ciliopathies
- Rare multisystem ciliopathy disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: TCTN3 was added gene: TCTN3 was added to Renal ciliopathies and nephronophthisis_KidGen_VCGS. Sources: Expert Review Green,KidGen_CilioNephronop v38.1.0 Mode of inheritance for gene: TCTN3 was set to Unknown