Version 0.11
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- ClinGen
- Expert Review Green
Phenotypes
- Familial thoracic aortic aneurysm and aortic dissection
|
Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.59
Latest signed off version: v2.2
(2 Mar 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Yorkshire and North East GLH
- NHS GMS
- Expert Review Red
- UKGTN
Phenotypes
|
Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 2.37
Latest signed off version: v2.17
(3 Mar 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Eligibility statement prior genetic testing
- Expert Review Green
- Expert list
Phenotypes
- Marfan syndrome, OMIM:154700
|
Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 2.110
Latest signed off version: v2.76
(5 Aug 2021)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- congenital ectopia lentis
- Marfan syndrome
- Weill-Marchesani syndrome
|
Version 0.22
|
review
|
Not set
|
Sources
|
Version 2.23
Latest signed off version: v2.4
(19 Feb 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Amber
- Expert Review
Phenotypes
- Marfan lipodystrophy syndrome, OMIM:616914
Tags
|
Version 1.23
Latest signed off version: v1.2
(19 Feb 2020)
|
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
- Weill-Marchesani syndrome 2, dominant, (608328)
- Marfan syndrome (154700)
- Ectopia lentis, familial (129600)
- Marfan lipodystrophy syndrome (616914)
- MASS syndrome (604308)
- Stiff skin syndrome (184900)
- Geleophysic dysplasia 2 (614185)
- Marfan Syndrome
- Aortic aneurysm, ascending, and dissection
- ongenital contracturalarachnodactyly
- Acromicric dysplasia (102370)
|
Level 3: Connective tissue disorders and aortopathies
Level 2: Cardiovascular disorders
Version 1.123
|
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
- Expert list
- UKGTN
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Ectopia lentis, familial (129600)
- Marfan syndrome (154700)
- Marfan lipodystrophy syndrome (616914)
- Aortic aneurysm, ascending, and dissection
- Weill-Marchesani syndrome 2, dominant, (608328)
- Acromicric dysplasia (102370)
- Stiff skin syndrome (184900)
- MASS syndrome (604308)
- ongenital contracturalarachnodactyly
- Geleophysic dysplasia 2 (614185)
- Marfan Syndrome
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.211
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Geleophysic dysplasia 2 614185
- Stiff skin syndrome 184900
- Marfan syndrome 154700
- Acromicric dysplasia 102370
- Weill-Marchesani syndrome 2, dominant 608328
|
Level 3: Connective tissues disorders
Level 2: Rheumatological disorders
Version 2.65
Latest signed off version: v2.3
(4 Mar 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
- Emory Genetics Laboratory
Phenotypes
- Marfan syndrome, OMIM:154700
|
Version 1.904
Latest signed off version: v1.92
(21 Aug 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
- MARFAN SYNDROME
- MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 2.76
Latest signed off version: v2.2
(13 Feb 2020)
|
review
|
Not set
|
Sources
- NHS GMS
- Expert Review Red
- Expert list
Phenotypes
|
Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.48
Latest signed off version: v2.2
(13 Feb 2020)
|
review
|
Not set
|
Sources
- Expert Review Removed
- Emory Genetics Laboratory
Phenotypes
- Disproportionate Short Stature
Tags
|
Version 2.78
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- ISOLATED ECTOPIA LENTIS 129600
- SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME 182212
- MARFAN SYNDROME 154700
- WEILL-MARCHESANI SYNDROME AUTOSOMAL DOMINANT 608328
- MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE 604308
Tags
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Marfan syndrome 154700
- MASS syndrome 604308
- Weill-Marchesani syndrome 2, dominant 608328
- Marfan lipodystrophy syndrome 616914
|
Version 1.132
Latest signed off version: v1.3
(4 Mar 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- NHS GMS
Phenotypes
- Marfan syndrome, 154700
- Weill-Marchesani syndrome 2, dominant, 608328
- MASS syndrome, 604308
- Marfan lipodystrophy syndrome, 616914
- Ectopia lentis, familial, 129600
|
Version 1.127
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Weill-Marchesani syndrome 2, dominant, 608328
- Ectopia lentis, familial, 129600
- Geleophysic dysplasia 2, 614185
- Marfan lipodystrophy syndrome, 616914
- Stiff skin syndrome, 184900
- Marfan syndrome, 154700
- MASS syndrome, 604308
- Acromicric dysplasia, 102370
|