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: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.43
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert list
Phenotypes
|
Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.75
|
review
|
Not set
|
Sources
- Expert Review Red
- Expert list
|
Level 2: Viral research
Version 1.142
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- IUIS Classification December 2019
- IUIS Classification December 2019
Phenotypes
- Loeys-Dietz syndrome 1, 609192
- Loeys Dietz syndrome due to TGFBR1 deficiency
- Combined immunodeficiencies with associated or syndromic features
- Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms
|
Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.16
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Yorkshire and North East GLH
- NHS GMS
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Loeys-Dietz syndrome 1 609192
|
Level 3: Structural lung disorders
Level 2: Respiratory disorders
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Pulmonary emphysema, MONDO:0004849
- Loeys-Dietz syndrome 1, OMIM:609192
|
Version 4.202
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- IUIS Classification December 2019
Phenotypes
- Loeys-Dietz syndrome 1, 609192
- Loeys Dietz syndrome due to TGFBR1 deficiency
- Recurrent respiratory infectons, eczema, food allergies, hyperextensible joints, scoliosis, retention of primary teeths, aortic anuerysms
- Combined immunodeficiencies with associated or syndromic features
- Loeys-Dietz syndrome 1, OMIM:609192
|
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
- Loeys Dietz syndrome, type 2A, 608967
- Loeys-Dietz syndrome
- Loeys Dietz syndrome, type 1A, 609192
- Loeys Dietz syndrome, type 1A (609192)
|
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
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Loeys-Dietz syndrome
- Loeys Dietz syndrome, type 2A, 608967
- Loeys Dietz syndrome, type 1A, 609192
- Loeys Dietz syndrome, type 1A (609192)
|
Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.29
Latest signed off version: v5.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
Phenotypes
- Loeys-Dietz syndrome 1 609192
|
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
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Removed
- NHS GMS
- UKGTN
- Expert list
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Loeys-Dietz syndrome 1 609192
- Loeys-Dietz syndrome 1 609192
Tags
|
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, NOT imprinted
|
Sources
- NHS GMS
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Emory Genetics Laboratory
- Expert list
Phenotypes
- Loeys-Dietz syndrome 1, OMIM:609192
|
Version 3.164
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- LOEYS-DIETZ SYNDROME TYPE 2A
- LOEYS-DIETZ SYNDROME TYPE 1A
- AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5
|
Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.180
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Expert list
Phenotypes
- Loeys-Dietz syndrome 1 609192
- 609192
|
Version 3.88
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
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- LOEYS-DIETZ SYNDROME TYPE 2A 608967
- LOEYS-DIETZ SYNDROME TYPE 1A 609192
- AORTIC ANEURYSM FAMILIAL THORACIC TYPE 5 609192
|
Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.110
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
Phenotypes
- LOEYS-DIETZ SYNDROME 1
- LDS1
|
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
|
Not set
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Loeys-Dietz syndrome 1, 609192 (includes uncommon developmental delay and mental retardation)
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Loeys-Dietz syndrome 1, 609192
|