Genomics England

BBS1

Bardet-Biedl syndrome 1

OMIM: 209901

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
Green in Bardet Biedl syndrome 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 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polydactyly, Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bardet Biedl syndrome 13, 268000, Bardet Biedl syndrome 1, Bardet Biedl syndrome 11
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel - Unexplained young onset end-stage renal disease Signed-off version 3.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
Green in Retinal disorders R-numbers: R32 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
Green in Severe early-onset obesity R-numbers: R149 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polydactyly, Bardet-Biedl syndrome 1 OMIM:209900, Bardet-Biedl syndrome 1 MONDO:0008854