B9D2

B9 domain containing 2
OMIM: 611951
PanelMode of inheritanceDetails
6 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 34, OMIM:614175, Meckel syndrome 10, OMIM:614175, Meckel syndrome, type 10, MONDO:0013609
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 34, OMIM:614175, Meckel syndrome 10, OMIM:614175, Meckel syndrome, type 10, MONDO:0013609
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 34, OMIM:614175, Meckel syndrome 10, OMIM:614175, Meckel syndrome, type 10, MONDO:0013609
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 34, OMIM:614175, Meckel syndrome 10, OMIM:614175, Meckel syndrome, type 10, MONDO:0013609
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 34, OMIM:614175, Meckel syndrome 10, OMIM:614175, Meckel syndrome, type 10, MONDO:0013609
R-numbers: R257
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome 34, OMIM:614175, Meckel syndrome 10, OMIM:614175, Meckel syndrome, type 10, MONDO:0013609