Genomics England

C5orf42

chromosome 5 open reading frame 42

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 4.102	BIALLELIC, autosomal or pseudoautosomal	Phenotypes OROFACIODIGITAL SYNDROME VI, OFD6
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JOUBERT SYNDROME 614615
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JOUBERT SYNDROME
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 5.343	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JOUBERT SYNDROME
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 3.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome, Oral-facial-digital syndrome type VI, Joubert syndrome 17
Green in Ophthalmological ciliopathies Component of the following Super Panels: - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome, Oral-facial-digital syndrome type VI, Joubert syndrome 17
Green in Renal ciliopathies Component of the following Super Panels: - Cystic renal disease - Paediatric disorders - Rare multisystem ciliopathy Super panel Signed-off version 3.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome, Oral-facial-digital syndrome type VI, Joubert syndrome 17
Green in Unexplained young onset end-stage renal disease R-numbers: R257 Signed-off version 3.11	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ciliopathy genes associated with cystic kidney disease, Joubert syndrome 17 614615