Genomics England

INPP5E

inositol polyphosphate-5-phosphatase E

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes JOUBERT SYNDROME TYPE 1 213300, MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS 610156
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.122	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS, JOUBERT SYNDROME TYPE 1
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 Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156, Joubert syndrome 1, 213300, MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS (MORMS)
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, Joubert syndrome 1
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, Joubert syndrome 1
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, Joubert syndrome 1
Green in Retinal disorders R-numbers: R32 Signed-off version 4.42	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Genetic Retinal Degeneration Conditions
Green in Structural eye disease R-numbers: R36 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Joubert syndrome, Joubert syndrome 1, 213300, Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156
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 1 213300