Version 0.11
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- ClinGen
Phenotypes
- Familial thoracic aortic aneurysm and aortic dissection
|
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
|
Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- South West GLH
- London South GLH
- South West GLH
- London South GLH
Phenotypes
- Ehlers-Danlos syndrome, cardiac valvular form
- Ehlers-Danlos syndrome, type VIIB
|
Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.127
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- South West GLH
- London South GLH
- Expert Review Green
- Expert list
Phenotypes
- Ehlers-Danlos syndrome, cardiac valvular form
- Ehlers-Danlos syndrome, type VIIB
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.54
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Expert
Phenotypes
- Ehlers-Danlos syndrome, cardiac valvular form, OMIM:225320
- Ehlers-Danlos syndrome, type VIIB, OMIM:130060
- Osteogenesis imperfecta, type II, OMIM:166210
- Osteogenesis imperfecta, type III, OMIM:259420
- Osteogenesis imperfecta, type IV, OMIM:166220
|
Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert list
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2, OMIM:619120
- Ehlers-Danlos syndrome, arthrochalasia type, 2, OMIM:617821
- Ehlers-Danlos syndrome, cardiac valvular type, OMIM:225320
|
Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- PAGE Additional Gene List
- Expert Review Green
Phenotypes
- Ehlers-Danlos syndrome
- Osteogenesis imperfecta
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert
Phenotypes
- Ehlers-Danlos syndrome, type VIIB, 130060
- Osteogenesis imperfecta, type IV, 166220
- Osteogenesis imperfecta, type III, 259420
- Osteogenesis imperfecta, type II, 166210
- {Osteoporosis, postmenopausal}, 166710
- Ehlers-Danlos syndrome, cardi
- Osteogenesis Imperfecta, Dominant
- Osteogenesis Imperfecta and Decreased Bone Density
- skeletal dysplasias
- Osteogenesis Imperfecta, Type IV
- Osteogenesis Imperfecta, Type II
- Osteogenesis Imperfecta, Type III
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
Not set
|
Sources
- Victorian Clinical Genetics Services
|
Version 1.182
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Osteogenesis imperfecta, type III, 259420
- Ehlers-Danlos syndrome, cardiac valvular type, 225320
- Osteogenesis imperfecta, type II, 166210
- Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821
- Osteogenesis imperfecta, type IV, 166220
|