BBS2

Bardet-Biedl syndrome 2
OMIM: 606151
PanelMode of inheritanceDetails
11 panels
R-numbers: R107
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 2, 615981
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARDET-BIEDL SYNDROME TYPE 2 209900
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARDET-BIEDL SYNDROME TYPE 2
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 2, 209900, BARDET-BIEDL SYNDROME TYPE 2 (BBS2)
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly, Bardet-Biedl syndrome 2, 615981
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet Biedl syndrome 2
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
Bardet Biedl syndrome 2
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Eye Disorders, Bardet-Biedl syndrome 2, 615981, Retinitis pigmentosa 74, 616562
R-numbers: R149
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Obesity, Bardet-Biedl syndrome 2, Bardet-Biedl syndrome 2, 615981
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly, Bardet-Biedl syndrome 2, 615981
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease, Bardet-Biedl syndrome 2 615981