Version 1.10
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Meckel syndrome 9, OMIM:614209
- Meckel syndrome 9, MONDO:0013630
- Joubert syndrome 27, OMIM:617120
- Joubert syndrome 27, MONDO:0014927
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Phenotypes
- Meckel syndrome 9, OMIM:614209
- Meckel syndrome 9, MONDO:0013630
- Joubert syndrome 27, OMIM:617120
- Joubert syndrome 27, MONDO:0014927
|
Version 4.21
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
Not set
|
Sources
- Expert Review Red
- Victorian Clinical Genetics Services
Phenotypes
- Meckel syndrome 9, OMIM:614209
- Meckel syndrome 9, MONDO:0013630
- Joubert syndrome 27, OMIM:617120
- Joubert syndrome 27, MONDO:0014927
|
Version 1.29
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Amber
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- Meckel syndrome 9, OMIM:614209
- Meckel syndrome 9, MONDO:0013630
- Joubert syndrome 27, OMIM:617120
- Joubert syndrome 27, MONDO:0014927
Tags
|
Version 1.31
Latest signed off version: v1.26
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
- NHS GMS
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert list
Phenotypes
- ?Meckel syndrome 9, OMIM:614209
- Meckel syndrome 9, MONDO:0013630
- Joubert syndrome 27, OMIM:617120
- Joubert syndrome 27, MONDO:0014927
|
Level 3: Respiratory ciliopathies
Level 2: Ciliopathies
Version 1.42
|
review
|
Not set
|
Sources
- Emory Genetics Laboratory
Phenotypes
- Meckel syndrome 9, OMIM:614209
- Meckel syndrome 9, MONDO:0013630
- Joubert syndrome 27, OMIM:617120
- Joubert syndrome 27, MONDO:0014927
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.63
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- NHS GMS
- UKGTN
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Meckel syndrome 9, OMIM:614209
- Meckel syndrome 9, MONDO:0013630
- Joubert syndrome 27, OMIM:617120
- Joubert syndrome 27, MONDO:0014927
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- PAGE DD-Gene2Phenotype
Phenotypes
- Meckel syndrome 9, OMIM:614209
- Meckel syndrome 9, MONDO:0013630
- Joubert syndrome 27, OMIM:617120
- Joubert syndrome 27, MONDO:0014927
|
Version 3.88
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.544
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
Phenotypes
- Meckel syndrome 9, OMIM:614209
- Meckel syndrome 9, MONDO:0013630
- Joubert syndrome 27, OMIM:617120
- Joubert syndrome 27, MONDO:0014927
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.171
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- Illumina TruGenome Clinical Sequencing Services
- Other
- Orphanet
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Meckel syndrome 9, OMIM:614209
- Meckel syndrome 9, MONDO:0013630
- Joubert syndrome 27, OMIM:617120
- Joubert syndrome 27, MONDO:0014927
Tags
|
Version 3.6
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
- Illumina TruGenome Clinical Sequencing Services
- Orphanet
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Other
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- Meckel syndrome 9, OMIM:614209
- Meckel syndrome 9, MONDO:0013630
- Joubert syndrome 27, OMIM:617120
- Joubert syndrome 27, MONDO:0014927
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.19
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
- Meckel syndrome 9, OMIM:614209
- Meckel syndrome 9, MONDO:0013630
- Joubert syndrome 27, OMIM:617120
- Joubert syndrome 27, MONDO:0014927
|
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:
Cystic renal disease
Paediatric disorders
Rare multisystem ciliopathy Super panel
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Illumina TruGenome Clinical Sequencing Services
- Orphanet
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Other
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- Meckel syndrome 9, OMIM:614209
- Meckel syndrome 9, MONDO:0013630
- Joubert syndrome 27, OMIM:617120
- Joubert syndrome 27, MONDO:0014927
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.22
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
Rare multisystem ciliopathy Super panel
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Illumina TruGenome Clinical Sequencing Services
- Orphanet
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Other
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- Meckel syndrome 9, OMIM:614209
- Meckel syndrome 9, MONDO:0013630
- Joubert syndrome 27, OMIM:617120
- Joubert syndrome 27, MONDO:0014927
|