TMEM107

transmembrane protein 107
OMIM: 616183
PanelMode of inheritanceDetails
5 panels
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 29, OMIM:617562, Meckel syndrome 13, OMIM:617562, Meckel syndrome 13, MONDO:0033044, Orofaciodigital syndrome XVI, OMIM:617563, Orofaciodigital syndrome 16, MONDO:0033045
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 13 617562, ?Joubert syndrome 29 617562, Orofaciodigital syndrome XVI 617563
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 13, 617562, ?Joubert syndrome 29, 617562, Orofaciodigital syndrome XVI, 617563
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 3.8
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome 13 617562, ?Joubert syndrome 29 617562, Orofaciodigital syndrome XVI 617563
R-numbers: R257
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Joubert syndrome 29 617562, Meckel syndrome 13 617562, Orofaciodigital syndrome XVI 617563