Genomics England
GMS Panels
Panels
Genes and Entities

TMEM107

transmembrane protein 107
OMIM: 616183
PanelMode of inheritanceDetails
4 panels
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 1.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 13 617562, ?Joubert syndrome 29 617562, Orofaciodigital syndrome XVI 617563
Green
in Ophthalmological ciliopathies
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 13, 617562, ?Joubert syndrome 29, 617562, Orofaciodigital syndrome XVI, 617563
Green
in Renal ciliopathies
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 13 617562, ?Joubert syndrome 29 617562, Orofaciodigital syndrome XVI 617563
Green
in Unexplained paediatric onset end-stage renal disease
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Joubert syndrome 29 617562, Meckel syndrome 13 617562, Orofaciodigital syndrome XVI 617563