INPP5E

inositol polyphosphate-5-phosphatase E
OMIM: 613037, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Amber INPP5E in Severe early-onset obesity Level 2: Endocrinology Version 5.21 Latest signed off version: v5.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156
No list INPP5E in Limb disorders Level 2: Musculoskeletal Version 7.22 Latest signed off version: v7.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Polydactyly Tags curated_removed
No list INPP5E in Ductal plate malformation Version 1.31	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed UKGTN Radboud University Medical Center, Nijmegen Illumina TruGenome Clinical Sequencing Services Phenotypes Joubert syndrome 1 (213300) Tags curated_removed
Red INPP5E in Cystic kidney disease Level 2: Renal Version 8.8 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Cystic renal disease Unexplained young onset end-stage renal disease	review	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease
Red INPP5E in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.124	review	Not set	Sources Expert Review Red Expert Phenotypes Ciliopathy genes associated with cystic kidney disease
Red INPP5E in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.51	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert Review Phenotypes Joubert syndrome
Red INPP5E in Differences in sex development Level 2: Endocrinology Version 4.14 Latest signed off version: v4.5 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red UKGTN Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156
Green INPP5E in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.169 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS JOUBERT SYNDROME TYPE 1
Green INPP5E in DDG2P Version 6.436 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes JOUBERT SYNDROME TYPE 1 213300 MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS 610156
Green INPP5E in Intellectual disability Level 2: Developmental disorders Version 9.329 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 Joubert syndrome 1, 213300 MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS (MORMS)
Green INPP5E in Retinal disorders Level 2: Ophthalmology Version 8.99 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Genetic Retinal Degeneration Conditions
Green INPP5E in Structural eye disease Level 2: Ophthalmology Version 4.40 Latest signed off version: v4.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Joubert syndrome Joubert syndrome 1, 213300 Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156
Green INPP5E in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.180	review	BIALLELIC, autosomal or pseudoautosomal	Sources Other Expert Review Green Expert list Phenotypes Joubert syndrome Joubert syndrome 1
Green INPP5E in Ophthalmological ciliopathies Level 2: Ophthalmology Version 5.15 Latest signed off version: v5.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Joubert syndrome Joubert syndrome 1
Green INPP5E in Neurological ciliopathies Level 2: Neurology Version 6.15 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Joubert syndrome Joubert syndrome 1
Green INPP5E in Renal ciliopathies Level 2: Renal Version 4.11 Latest signed off version: v4.0 (30 Apr 2025) Component of the following Super Panels: Cystic renal disease Paediatric disorders Rare multisystem ciliopathy Super panel Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Other Phenotypes Joubert syndrome Joubert syndrome 1
Red INPP5E in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PanelApp Expert Review Red London North GLH Phenotypes Joubert syndrome Joubert syndrome 1