Genomics England

B9D2

B9 domain containing 2

OMIM: 611951

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.80	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 34, OMIM:614175, Meckel syndrome 10, OMIM:614175, Meckel syndrome, type 10, MONDO:0013609
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 34, OMIM:614175, Meckel syndrome 10, OMIM:614175, Meckel syndrome, type 10, MONDO:0013609
Green in Neurological ciliopathies Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 34, OMIM:614175, Meckel syndrome 10, OMIM:614175, Meckel syndrome, type 10, MONDO:0013609
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.8	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 34, OMIM:614175, Meckel syndrome 10, OMIM:614175, Meckel syndrome, type 10, MONDO:0013609
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 3.18	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 34, OMIM:614175, Meckel syndrome 10, OMIM:614175, Meckel syndrome, type 10, MONDO:0013609