Genomics England

TMEM231

transmembrane protein 231

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 20 614970, Meckel syndrome 11 615397
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 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Meckel syndrome, Joubert syndrome 20, Joubert syndrome with oculorenal defect, Joubert syndrome 20, 614970, Meckel syndrome 11, 615397
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 4.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Meckel syndrome, Joubert syndrome 20, Joubert syndrome with oculorenal defect, Joubert syndrome 20, 614970, Meckel syndrome 11, 615397
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 3.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Meckel syndrome, Joubert syndrome 20, Joubert syndrome with oculorenal defect, Joubert syndrome 20, 614970, Meckel syndrome 11, 615397
Green in Retinal disorders R-numbers: R32 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 20, OMIM:614970
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 20 614970, Meckel syndrome 11 615397