BBS1

Bardet-Biedl syndrome 1
OMIM: 209901
PanelMode of inheritanceDetails
11 panels
R-numbers: R107
Signed-off version 2.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
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
Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly, Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.1
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
R-numbers: R149
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polydactyly, Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
R-numbers: R257
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease, Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854