TMEM218

transmembrane protein 218
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TMEM218-associated ciliopathy
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 39, OMIM:619562
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.10
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 39, OMIM:619562
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 39, OMIM:619562
R-numbers: R32
Signed-off version 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 39, OMIM:619562