Version 0.149
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review
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MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
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Sources
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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
- Hyperproinsulinemia, familial, with or without diabetes
- Maturity-onset diabetes of the young, type 10, 613370
- Diabetes mellitus, permanent neonatal, 606176
- Diabetes mellitus, type 1, 125852
- Diabetes mellitus, insulin-dependent, 2, 125852
- Maturity Onset Diabetes of the Young
- Transient Neonatal Diabetes, Dominant/Recessive
- Neonatal Diabetes
- Monogenic 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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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
- Hyperproinsulinemia, familial, with or without diabetes
- Maturity-onset diabetes of the young, type 10, 613370
- Diabetes mellitus, permanent neonatal, 606176
- Diabetes mellitus, type 1, 125852
- Diabetes mellitus, insulin-dependent, 2, 125852
- Maturity Onset Diabetes of the Young
- Transient Neonatal Diabetes, Dominant/Recessive
- Permanent Neonatal diabetes mellitus
- MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10
- MODY10
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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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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
- Hyperproinsulinemia, OMIM:616214
- Maturity-onset diabetes of the young, type 10, 613370
- Diabetes mellitus, insulin-dependent, 2, 125852
- Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (Dominant/Recessive)
- Permanent Neonatal diabetes mellitus, MONDO:010016
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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
|
Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Maturity Onset Diabetes of the Young
- Hyperproinsulinemia, familial, with or without diabetes
- Transient Neonatal Diabetes, Dominant/Recessive
- Maturity Onset Diabetes of the Young (Dominant)
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Version 2.58
Latest signed off version: v2.2
(25 Feb 2020)
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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
Phenotypes
- Maturity-onset diabetes of the young, type 10, OMIM:613370
- Diabetes mellitus, permanent neonatal 4, OMIM:618858
- Diabetes mellitus, insulin-dependent, 2, OMIM:125852
- Hyperproinsulinemia, OMIM:616214
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