Genomics England

transmembrane protein 138

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 16 614465
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 4.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome with oculorenal defect, Joubert syndrome 16
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 Joubert syndrome with oculorenal defect, Joubert syndrome 16
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 Joubert syndrome with oculorenal defect, Joubert syndrome 16
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, Joubert syndrome 16 614465