TCTN2

tectonic family member 2
OMIM: 613846
PanelMode of inheritanceDetails
7 panels
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOUBERT SYNDROME AND RELATED DISORDERS
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
JOUBERT SYNDROME AND RELATED DISORDERS
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome, Joubert syndrome 24, Joubert syndrome, Meckel-Gruber syndrome
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome, Joubert syndrome 24, Joubert syndrome, Meckel-Gruber syndrome
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome, Joubert syndrome 24, Joubert syndrome, Meckel-Gruber syndrome
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 24 616654, Meckel syndrome 8 613885
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome, Joubert syndrome, Meckel-Gruber syndrome, Joubert syndrome 24