Genomics England
GMS Panels
Panels
Genes and Entities

TMEM218

transmembrane protein 218
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
TMEM218-associated ciliopathy
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 39, OMIM:619562
Green
in Neurological ciliopathies
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 39, OMIM:619562
Green
in Ophthalmological ciliopathies
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
Green
in Retinal disorders
R-numbers: R32
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 39, OMIM:619562