Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.45
|
review
|
Not set
|
Sources
- London North GLH
- NHS GMS
- Emory Genetics Laboratory
Phenotypes
Tags
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- OROFACIODIGITAL SYNDROME VI
- OFD6
Tags
|
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Expert Review Removed
- Victorian Clinical Genetics Services
Phenotypes
Tags
- new-gene-name
- curated_removed
|
Version 1.29
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Removed
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Orofaciodigital syndrome VI (277170)
- Joubert syndrome 17 (614615)
Tags
- new-gene-name
- curated_removed
|
Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
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
Tags
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.119
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
Not set
|
Sources
Phenotypes
- Ciliopathy genes associated with cystic kidney disease
Tags
|
Level 3: Ocular malformations
Level 2: Ophthalmological disorders
Version 1.47
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Expert Review
Phenotypes
- Joubert syndrome
- Oral-facial-digital syndrome type VI
Tags
|
Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Phenotypes
Tags
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Tags
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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 17 614615
Tags
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
Tags
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
Tags
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- OROFACIODIGITAL SYNDROME VI
- OFD6
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.1
Latest signed off version: v6.0
(1 May 2024)
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
Tags
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
|
review
|
Not set
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
Tags
|
Version 3.77
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Red
Phenotypes
- Joubert syndrome
- Oral-facial-digital syndrome type VI
- Oriofaciodigital Syndrome VI, OFD6, 277170
- Joubert syndrome 17, 614615
Tags
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.172
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Other
- Expert Review Green
- Expert list
Phenotypes
- Joubert syndrome
- Oral-facial-digital syndrome type VI
- Joubert syndrome 17
Tags
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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
- Oral-facial-digital syndrome type VI
- Joubert syndrome 17
Tags
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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
- Oral-facial-digital syndrome type VI
- Joubert syndrome 17
Tags
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.6
Latest signed off version: v3.5
(1 May 2024)
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
- Oral-facial-digital syndrome type VI
- Joubert syndrome 17
Tags
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PanelApp
- Expert Review Red
- London North GLH
- Expert Review Red
- London North GLH
Phenotypes
- Joubert syndrome 17
- Oral-facial-digital syndrome type VI
- Joubert syndrome
Tags
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Joubert syndrome 17, 614615
- Orofaciodigital syndrome VI, 277170
Tags
|