Genomics England

TMEM216

transmembrane protein 216

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JOUBERT SYNDROME 2 608091
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Meckel syndrome 2, OMIM:603194, Meckel syndrome, type 2, MONDO:0011296
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 JOUBERT SYNDROME 2
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 4.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome: Meckel-Gruber syndrome, Joubert syndrome with oculorenal defect, Meckel syndrome, Joubert syndrome 2
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 Joubert syndrome: Meckel-Gruber syndrome, Joubert syndrome with oculorenal defect, Meckel syndrome, Joubert syndrome 2
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 Joubert syndrome: Meckel-Gruber syndrome, Joubert syndrome with oculorenal defect, Meckel syndrome, Joubert syndrome 2
Green in Retinal disorders R-numbers: R32 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 2, OMIM:608091, MONDO:0011963, Meckel syndrome 2, OMIM:603194, MONDO:0011296
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 Meckel syndrome 2 603194, Joubert syndrome 2 608091
Green in Structural eye disease R-numbers: R36 Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome, Joubert syndrome 2, 608091, Meckel syndrome 2, 603194, Meckel-Gruber syndrome