TMEM231

transmembrane protein 231
OMIM: 614949
PanelMode of inheritanceDetails
6 panels
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 20 614970, Meckel syndrome 11 615397
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 20, Joubert syndrome with oculorenal defect, Joubert syndrome 20, 614970, Meckel syndrome 11, 615397
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 20, Joubert syndrome with oculorenal defect, Joubert syndrome 20, 614970, Meckel syndrome 11, 615397
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 20, Joubert syndrome with oculorenal defect, Joubert syndrome 20, 614970, Meckel syndrome 11, 615397
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 20 614970, Meckel syndrome 11 615397
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease, Joubert syndrome 20 614970, Meckel syndrome 11 615397