INPP5E

Amber INPP5E in Severe early-onset obesity

Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 4.10
Latest signed off version: v4.0 (22 Mar 2023)

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

Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Removed
• Victorian Clinical Genetics Services

Phenotypes

• Polydactyly

Tags

• curated_removed

No list INPP5E in Ductal plate malformation

Version 1.29

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 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 4.24
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

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 1.118

Component of the following Super Panels:

Sources

• Expert
• Expert Review Red

Phenotypes

• Ciliopathy genes associated with cystic kidney disease

Red INPP5E in Ocular coloboma

Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.47

Sources

• Expert Review Red
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen
• UKGTN
• Expert Review

Phenotypes

• Joubert syndrome

Red INPP5E in Disorders of sex development

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Red
• UKGTN
• Radboud University Medical Center, Nijmegen

Phenotypes

• Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156

Green INPP5E in Unexplained young onset end-stage renal disease

Version 3.40
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Ciliopathy genes associated with cystic kidney disease
• Joubert syndrome 1 213300

Green INPP5E in Fetal anomalies

Version 3.155
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PAGE DD-Gene2Phenotype
• Expert Review Green

Phenotypes

• MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS
• JOUBERT SYNDROME TYPE 1

Green INPP5E in DDG2P

Version 3.87
Latest signed off version: v3.1 (22 Mar 2023)

Component of the following Super Panels:

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 - microarray and sequencing

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0 (22 Mar 2023)

Component of the following Super Panels:

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 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.89
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert Review Green

Phenotypes

• Genetic Retinal Degeneration Conditions

Green INPP5E in Structural eye disease

Version 3.77
Latest signed off version: v3.0 (22 Mar 2023)

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 1.170

Sources

• Other
• Expert Review Green
• Expert list

Phenotypes

• Joubert syndrome
• Joubert syndrome 1

Green INPP5E in Ophthalmological ciliopathies

Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert list
• Other

Phenotypes

• Joubert syndrome
• Joubert syndrome 1

Green INPP5E in Neurological ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.18
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green

Phenotypes

• Joubert syndrome
• Joubert syndrome 1

Green INPP5E in Renal ciliopathies

Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

Component of the following Super Panels:

Sources

• Expert Review Green
• Expert list
• Other

Phenotypes

• Joubert syndrome
• Joubert syndrome 1

Red INPP5E in Childhood onset dystonia, chorea or related movement disorder

Version 3.75
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• PanelApp
• Expert Review Red
• London North GLH

Phenotypes

• Joubert syndrome
• Joubert syndrome 1

Green INPP5E in Severe Paediatric Disorders

Version 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Joubert syndrome 1, 213300
• Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156