TMEM216

transmembrane protein 216
OMIM: 613277
PanelMode of inheritanceDetails
7 panels
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 2
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
Joubert syndrome: Meckel-Gruber syndrome, Joubert syndrome with oculorenal defect, Meckel syndrome, Joubert syndrome 2
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome: Meckel-Gruber syndrome, Joubert syndrome with oculorenal defect, Meckel syndrome, Joubert syndrome 2
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
Joubert syndrome: Meckel-Gruber syndrome, Joubert syndrome with oculorenal defect, Meckel syndrome, Joubert syndrome 2
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 2 603194, Joubert syndrome 2 608091
R-numbers: R36
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome, Joubert syndrome 2, 608091, Meckel syndrome 2, 603194, Meckel-Gruber syndrome
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease, Joubert syndrome 2 608091, Meckel syndrome 2 603194