Genomics England
GMS Panels
Panels
Genes and Entities

TMEM138

transmembrane protein 138
OMIM: 614459
PanelMode of inheritanceDetails
5 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.122
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 16 614465
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 3.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome with oculorenal defect, Joubert syndrome 16
Green
in Ophthalmological ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome with oculorenal defect, Joubert syndrome 16
Green
in Renal ciliopathies
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome with oculorenal defect, Joubert syndrome 16
Green
in Unexplained young onset end-stage renal disease
R-numbers: R257
Signed-off version 3.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease, Joubert syndrome 16 614465