B9D2

B9 domain containing 2
OMIM: 611951
PanelMode of inheritanceDetails
4 panels
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
Joubert syndrome, Meckel syndrome 10, 614175, ciliopathies, Meckel syndrome
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome, Meckel syndrome 10, 614175, ciliopathies, Meckel syndrome
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
Joubert syndrome, Meckel syndrome 10, 614175, ciliopathies, Meckel syndrome
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Meckel syndrome, Joubert syndrome, Meckel syndrome 10, 614175, ciliopathies