Genomics England

transmembrane protein 107

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome 29, OMIM:617562, Meckel syndrome 13, OMIM:617562, Meckel syndrome 13, MONDO:0033044, Orofaciodigital syndrome XVI, OMIM:617563, Orofaciodigital syndrome 16, MONDO:0033045
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 13 617562, ?Joubert syndrome 29 617562, Orofaciodigital syndrome XVI 617563
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 13, 617562, ?Joubert syndrome 29, 617562, Orofaciodigital syndrome XVI, 617563
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 13 617562, ?Joubert syndrome 29 617562, Orofaciodigital syndrome XVI 617563