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
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Sources
- Expert Review Removed
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hyperinsulinemic hypoglycemia, familial, 2, 601820
- Diabetes, permanent neonatal, 606176
- Diabetes mellitus, permanent neonatal, with neurologic features, 606176
- {Diabetes mellitus, type 2, susceptibility to}, 125853
- Diabetes mellitus, transient neonatal, 3, 610582
- Maturity Onset Diabetes of the Young
- Transient Neonatal Diabetes, Dominant
- Monogenic Diabetes
- Diabetes Mellitus, Transient Neonatal, 3
- Diabetes Mellitus, Permanent Neonatal
- Neonatal Diabetes
Tags
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Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hyperinsulinemic hypoglycemia, familial, 2, 601820
- Diabetes, permanent neonatal, 606176
- Diabetes mellitus, permanent neonatal, with neurologic features, 606176
- {Diabetes mellitus, type 2, susceptibility to}, 125853
- Diabetes mellitus, transient neonatal, 3, 610582
- {Diabetes mellitus, type 2, susceptibility to}, 125853
- Diabetes mellitus, trans
- Maturity Onset Diabetes of the Young
- Transient Neonatal Diabetes, Dominant
- Diabetes Mellitus, Permanent Neonatal
- Diabetes Mellitus, Transient Neonatal, 3
- Transient Neonatal diabetes mellitus (Dominant)
- Maturity Onset Diabetes of the Young (Dominant)
- Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive)
- Transient Neonatal, 3
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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)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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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, 2, 601820
- Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856
- {Diabetes mellitus, type 2, susceptibility to}, OMIM:125853
- Diabetes mellitus, transient neonatal, 3, OMIM:610582
- Maturity-onset diabetes of the young, type 13, OMIM:616329
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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)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
Phenotypes
- Hyperinsulinism, Dominant/Recessive
- Hyperinsulinemic hypoglycemia, familial, 2, 601820
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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
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582
- Maturity Onset Diabetes of the Young
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Version 2.57
Latest signed off version: v2.2
(25 Feb 2020)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Diabetes mellitus, transient neonatal, 3, OMIM:610582
- Diabetes, permanent neonatal 2, with or without neurologic features, OMIM:618856
- Hyperinsulinemic hypoglycemia, familial, 2, OMIM:601820
- Maturity-onset diabetes of the young, type 13, OMIM:616329
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL
- FAMILIAL HYPERINSULINISM
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Version 3.79
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- DIABETES MELLITUS, KCNJ11-RELATED TRANSIENT NEONATAL 261090
- FAMILIAL HYPERINSULINISM 3272
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 4.183
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Diabetes, permanent neonatal, with or without neurologic features, 606176
- DEND syndrome
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582
- FAMILIAL HYPERINSULINISM
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Version 1.182
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Diabetes mellitus, transient neonatal, 3, 610582
- Maturity-onset diabetes of the young, type 13, 616329
- Diabetes, permanent neonatal, with or without neurologic features, 606176
- Hyperinsulinemic hypoglycemia, familial, 2, 601820
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Version 1.3
Latest signed off version: v1.2
(26 Sep 2023)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Green
- NHS GMS
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