Level 3: Obesity syndromes
Level 2: Endocrine disorders
Version 4.10
Latest signed off version: v4.0
(22 Mar 2023)
|
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
|
Version 4.16
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Expert Review Removed
- Victorian Clinical Genetics Services
Phenotypes
Tags
|
Version 1.28
|
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
|
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:
Cystic renal disease
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
Not set
|
Sources
Phenotypes
- Ciliopathy genes associated with cystic kidney disease
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.118
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
Not set
|
Sources
Phenotypes
- Ciliopathy genes associated with cystic kidney disease
|
Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.46
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert Review
Phenotypes
|
Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
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
|
Version 3.39
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Ciliopathy genes associated with cystic kidney disease
- Joubert syndrome 1 213300
|
Version 3.140
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- MENTAL RETARDATION-TRUNCAL OBESITY-RETINAL DYSTROPHY-MICROPENIS
- JOUBERT SYNDROME TYPE 1
|
Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
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
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.499
Latest signed off version: v5.0
(22 Mar 2023)
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)
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 4.81
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Genetic Retinal Degeneration Conditions
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
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
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.169
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Other
- Expert Review Green
- Expert list
Phenotypes
- Joubert syndrome
- Joubert syndrome 1
|
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
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
|
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:
Hereditary ataxia and cerebellar anomalies - childhood onset
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Joubert syndrome
- Joubert syndrome 1
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.4
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Cystic renal disease
Paediatric disorders
Rare multisystem ciliopathy Super panel
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert list
- Other
Phenotypes
- Joubert syndrome
- Joubert syndrome 1
|
Version 3.74
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PanelApp
- Expert Review Red
- London North GLH
Phenotypes
- Joubert syndrome
- Joubert syndrome 1
|
Version 1.182
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Joubert syndrome 1, 213300
- Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156
|