Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.11
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Removed
- UKGTN
Phenotypes
- Neonatal Diabetes
- Monogenic Diabetes
Tags
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- UKGTN
Phenotypes
- Pancreatic agenesis and congenital heart defects
- PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS
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Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
Phenotypes
- Pancreatic agenesis and congenital heart defects, OMIM:600001
- neonatal diabetes mellitus, MONDO:0016391
Tags
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- UKGTN
|
Level 3: Congenital heart disease
Level 2: Cardiovascular disorders
Version 1.80
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
|
Version 2.58
Latest signed off version: v2.2
(25 Feb 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- PANCREATIC AGENESIS AND CONGENITAL HEART DEFECTS, OMIM:600001
- Metabolic syndrome, MONDO:0004955 (coronary artery disease, hypertension, central obesity and diabetes)
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Level 3: Cardiomyopathy
Level 2: Cardiovascular disorders
Version 2.25
Latest signed off version: v2.23
(1 May 2024)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- NHS GMS
|
Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ATRIAL SEPTAL DEFECT 9
- PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS
- ATRIOVENTRICULAR SEPTAL DEFECT 5
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- PANCREATIC AGENESIS, DIAPHRAGMATIC HERNIA AND CONGENITAL HEART DEFECTS 600001
- ATRIOVENTRICULAR SEPTAL DEFECT 5 614474
- ATRIAL SEPTAL DEFECT 9 614475
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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
|
Unknown
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Sources
Phenotypes
- CONOTRUNCAL HEART MALFORMATIONS
- CTHM
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.9
Latest signed off version: v6.0
(1 May 2024)
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
- Atrioventricular septal defect 5, 614474
- Atrial septal defect 9, 614475
- Pancreatic agenesis and congenital heart defects, 600001
- Persistent truncus arteriosus, 217095
- Tetralogy of Fallot, 187500
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- NHS GMS
|
Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Persistent truncus arteriosus, 217095
- Tetralogy of Fallot, 187500
- Atrioventricular septal defect 5, 614474
- Atrial septal defect 9, 614475
- Pancreatic agenesis and congenital heart defects, 600001
|