Version 0.11
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- ClinGen
Phenotypes
- Familial thoracic aortic aneurysm and aortic dissection
|
Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.15
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Green
- Other
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Moyamoya disease 5, OMIM:614042
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.23
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert Review
Phenotypes
- Multisystemic smooth muscle dysfunction syndrome, OMIM:613834
|
Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
|
Sources
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review
- Expert Review Red
Phenotypes
- Multi system smooth muscle dysfunction
|
Version 3.11
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- North West GLH
- South West GLH
- London South GLH
- Expert Review Green
- South West GLH
- London South GLH
- North West GLH
Phenotypes
- Aortic aneurysm, familial thoracic 6, 611788
- Aortic aneurysm, familial thoracic 6 (611788)
- Thoracic aortic aneurysm and dissection
- Multisystemic smooth muscle dysfunction syndrome, 613834
- Moyamoya disease 5 (614042)
- Thoracic Aortic Aneurysms and Aortic Dissections
- Multisystemic smooth muscle dysfunction syndrome (613834)
- Moyamoya disease 5, 614042
- Isolated familial thoracic aortic aneurysms and dissection
|
Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.127
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- South West GLH
- London South GLH
- North West GLH
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Emory Genetics Laboratory
Phenotypes
- Aortic aneurysm, familial thoracic 6, 611788
- Thoracic Aortic Aneurysms and Aortic Dissections
- Moyamoya disease 5 (614042)
- Thoracic aortic aneurysm and dissection
- Moyamoya disease 5, 614042
- Isolated familial thoracic aortic aneurysms and dissection
- Multisystemic smooth muscle dysfunction syndrome (613834)
- Aortic aneurysm, familial thoracic 6 (611788)
- Multisystemic smooth muscle dysfunction syndrome, 613834
|
Level 3: Structural renal and urinary tract disease
Level 2: Renal and urinary tract disorders
Version 1.175
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Expert Review
Phenotypes
- Multi system smooth muscle dysfunction
|
Version 3.40
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Expert Review Red
Phenotypes
- Multi system smooth muscle dysfunction
|
Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- Expert list
- Emory Genetics Laboratory
Phenotypes
- Aortic aneurysm, familial thoracic 6, OMIM:611788
|
Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- PAGE DD-Gene2Phenotype
Phenotypes
- AORTIC ANEURYSM, FAMILIAL THORACIC 6
- MOYAMOYA DISEASE 5
|
Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- AORTIC ANEURYSM, FAMILIAL THORACIC 6 611788
- MOYAMOYA DISEASE 5 614042
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Aortic aneurysm, familial thoracic 6, 611788
- Multisystemic
- smooth muscle dysfunction syndrome, 613834
- Moyamoya disease 5, 614042
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Multisystemic smooth muscle dysfunction syndrome, 613834
- Moyamoya disease 5, 614042
- Aortic aneurysm, familial thoracic 6, 611788
|
Version 1.5
Latest signed off version: v1.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Multisystemic smooth muscle dysfunction syndrome, OMIM:613834
|