Genomics England

BBS2

Bardet-Biedl syndrome 2

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Bardet Biedl syndrome R-numbers: R107 Signed-off version 2.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bardet-Biedl syndrome 2, 615981
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes BARDET-BIEDL SYNDROME TYPE 2 209900
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes BARDET-BIEDL SYNDROME TYPE 2
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bardet-Biedl syndrome 2, 209900, BARDET-BIEDL SYNDROME TYPE 2 (BBS2)
Green in Limb disorders Component of the following Super Panels: - Paediatric disorders Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polydactyly, Bardet-Biedl syndrome 2, 615981
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bardet Biedl syndrome 2
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Bardet Biedl syndrome 2
Green in Retinal disorders R-numbers: R32 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Eye Disorders, Bardet-Biedl syndrome 2, 615981, Retinitis pigmentosa 74, 616562
Green in Severe early-onset obesity R-numbers: R149 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Obesity, Bardet-Biedl syndrome 2, OMIM:615981
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polydactyly, Bardet-Biedl syndrome 2, 615981
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ciliopathy genes associated with cystic kidney disease, Bardet-Biedl syndrome 2 615981