Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.9
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review
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Unknown
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hyperinsulinemic hypoglycemia, familial, 1, 256450
- Hypoglycemia of infancy, leucine-sensitive, 240800
- Diabetes mellitus, transient neonatal 2, 610374
- Diabetes mellitus, noninsulin-dependent, 125853
- Diabetes mellitus, noninsulin-dependent, 125854
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Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.11
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Removed
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hyperinsulinemic hypoglycemia, familial, 1, 256450
- Hypoglycemia of infancy, leucine-sensitive, 240800
- Diabetes mellitus, transient neonatal 2, 610374
- Diabetes mellitus, noninsulin-dependent, 125853
- Diabetes mellitus, permanent neonatal, 6
- Permanent Neonatal Diabetes Mellitus
- Transient Neonatal Diabetes, Dominant
- Monogenic Diabetes
- Neonatal Diabetes
Tags
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Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hyperinsulinemic hypoglycemia, familial, 1, 256450
- Hypoglycemia of infancy, leucine-sensitive, 240800
- Diabetes mellitus, transient neonatal 2, 610374
- Diabetes mellitus, noninsulin-dependent, 125853
- Diabetes mellitus, permanent neonatal, 6
- Permanent Neonatal Diabetes Mellitus
- Transient Neonatal Diabetes, Dominant
- Permanent neonatal diabetes mellitus
- transient neonatal diabetes (Dominant)
- DIABETES MELLITUS, NONINSULIN-DEPENDENT
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Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 4.6
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450
- Hypoglycemia of infancy, leucine-sensitive, OMIM:240800
- Diabetes mellitus, transient neonatal 2, OMIM:610374
- Diabetes mellitus, noninsulin-dependent, OMIM:125853
- Diabetes mellitus, permanent neonatal 3, with or without neurologic features, OMIM:618857
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Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 3.4
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Hyperinsulinism, Dominant/Recessive
- Hyperinsulinemic hypoglycemia, familial, 1, 256450
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Permanent Neonatal Diabetes Mellitus
- Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6
- Permanent Neonatal Diabetes Mellitus (recessive)
- Transient Neonatal Diabetes, Dominant
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Version 2.58
Latest signed off version: v2.2
(25 Feb 2020)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Transient Neonatal Diabetes Mellitus, MONDO:0020525 (dominant)
- Diabetes mellitus, noninsulin-dependent, OMIM:125853
- Diabetes mellitus, transient neonatal 2, OMIM:610374
- Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450
- Hypoglycemia of infancy, leucine-sensitive, OMIM:240800
- Permanent Neonatal Diabetes Mellitus, MONDO:0100164(recessive)
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Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders
Version 3.5
Latest signed off version: v3.0
(30 Nov 2022)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- Expert list
Phenotypes
- Diabetes mellitus
- Hypoglycaemia
- Pulmonary arterial hypertension
Tags
- for-review
- to_be_confirmed_NHSE
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- PAGE Additional Gene List
Phenotypes
- Hyperinsulinemic hypoglycemia, familial 256450
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
|
Not set
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Sources
- Victorian Clinical Genetics Services
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Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Diabetes mellitus, transient neonatal 2, 610374
- Hypoglycemia of infancy, leucine-sensitive, 240800
- Diabetes mellitus, permanent neonatal, 606176
- Hyperinsulinemic hypoglycemia, familial, 1, 256450
- Diabetes mellitus, noninsulin-dependent, 125853
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Version 1.3
Latest signed off version: v1.2
(26 Sep 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- NHS GMS
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