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
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- MODY, type II, 125851
- Diabetes mellitus, noninsulin-dependent, late onset, 125853
- Diabetes mellitus, gestational, 125851
- Hyperinsulinemic hypoglycemia, familial, 3, 602485
- Diabetes mellitus, permanent neonatal, 606176
- Maturity Onset Diabetes of the Young
- Permanent Neonatal Diabetes Mellitus
- Transient Neonatal Diabetes, Recessive
- Maturity Onset Diabetes of the Young (MODY)
- Monogenic Diabetes
- Maturity-Onset Diabetes Of The Young
- 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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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- MODY, type II, 125851
- Diabetes mellitus, noninsulin-dependent, late onset, 125853
- Diabetes mellitus, gestational, 125851
- Hyperinsulinemic hypoglycemia, familial, 3, 602485
- Diabetes mellitus, permanent neonatal, 606176
- Maturity Onset Diabetes of the Young
- Permanent Neonatal Diabetes Mellitus
- Transient Neonatal Diabetes, Recessive
- Maturity-onset diabetes of the young (MODY)
- Maturity-Onset Diabetes Of The Young
- Permanent neonatal diabetes
- MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 2
- MODY2
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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
- MODY, type II, OMIM:125851
- Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853
- Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485
- Diabetes mellitus, permanent neonatal 1, OMIM:606176
- Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (recessive)
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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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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Hyperinsulinism, Dominant
- MODY, type II, 125851
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Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
|
review
|
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- Maturity-onset diabetes of the young (MODY)
- Maturity Onset Diabetes of the Young
- MODY, type II, 125851
- Transient Neonatal Diabetes, Recessive
- Permanent Neonatal Diabetes Mellitus (recessive)
- Maturity Onset Diabetes of the Young (Dominant)
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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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BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Hyperinsulinemic hypoglycemia, familial, 3, OMIM:602485
- Diabetes mellitus, noninsulin-dependent, late onset, OMIM:125853
- MODY, type II, OMIM:125851
- Diabetes mellitus, permanent neonatal 1, OMIM:606176
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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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Not set
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Sources
- Victorian Clinical Genetics Services
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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, permanent neonatal, 606176
- MODY, type II, 125851
- Hyperinsulinemic hypoglycemia, familial, 3, 602485
- Diabetes mellitus, noninsulin-dependent, late onset, 125853
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Version 1.1
Latest signed off version: v1.0
(14 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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