BBS1

Bardet-Biedl syndrome 1
OMIM: 209901
PanelMode of inheritanceDetails
11 panels
R-numbers: R107
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 1, 209900
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 1 209900
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BARDET-BIEDL SYNDROME TYPE 1
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 1, 209900, BARDET-BIEDL SYNDROME TYPE 1 (BBS1)
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly, Bardet-Biedl syndrome 1 209900
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 13, 268000, Bardet Biedl syndrome 1, Bardet Biedl syndrome 11
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 13, 268000, Bardet Biedl syndrome 1, Bardet Biedl syndrome 11
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
R-numbers: R149
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Obesity, Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1, 209900
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 1 209900
R-numbers: R257
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease, Bardet-Biedl syndrome type 1 209900