Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Mainzer-Saldino Syndrome
- Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
|
Version 5.4
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
|
Version 1.29
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Removed
- Expert list
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Short-rib thoracic dysplasia 9 with or without polydactyly (266920)
Tags
|
Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 5.3
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Research
- Literature
Phenotypes
- Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920
- short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964
- cystic kidney disease, MONDO:0002473
|
Version 3.11
Latest signed off version: v3.10
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Short-rib thoracic dysplasia 9 with or without polydactyly OMIM:266920
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Short-rib thoracic dysplasia 9 with of without polydactyly, 266920
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920
- cystic kidney disease, MONDO:0002473
- short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964
|
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
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 5.1
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.5
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
- Expert Review Removed
- Emory Genetics Laboratory
Phenotypes
- Disproportionate Short Stature
Tags
|
Version 4.3
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
- MAINZER-SALDINO SYNDROME 266920
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 5.3
Latest signed off version: v5.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY
- SRTD9
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
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 Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Short-rib thoracic dysplasia 9 with or without polydactyly, 266920
|
Level 3: Posterior segment abnormalities
Level 2: Ophthalmological disorders
Version 5.4
Latest signed off version: v5.0
(1 May 2024)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Genetic Retinal Degeneration Conditions
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.172
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Other
- Orphanet
- UKGTN
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Short-rib thoracic dysplasia 9 with or without polydactyly, 266920
- Jeune syndrome
- Saldino-Mainzer syndrome
- Short-rib thoracic dysplasia 9 with or without polydactyly
- Mainzer-Saldino Syndrome
|
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
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Expert Review
Phenotypes
- Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920
- short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964
- cystic kidney disease, MONDO:0002473
|
Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 4.3
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
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Orphanet
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Other
Phenotypes
- Saldino-Mainzer syndrome
- Jeune syndrome
- Short-rib thoracic dysplasia 9 with or without polydactyly, 266920
- Mainzer-Saldino Syndrome
- Short-rib thoracic dysplasia 9 with or without polydactyly
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Short-rib thoracic dysplasia 9 with or without polydactyly, 266920
- Retinitis pigmentosa 80, 617781
|