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
- Leprechaunism, 246200
- Rabson-Mendenhall syndrome, 262190
- Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549
- Hyperinsulinemic hypoglycemia, familial, 5, 609968
- Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans
- Monogenic Diabetes
Tags
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Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.58
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Emory Genetics Laboratory
Phenotypes
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
|
review
|
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
- Diabetes mellitus, insulin-resistant, with acanthosis nigricans
- OMIM 610549
- Leprechaunism, 246200
- Rabson-Mendenhall syndrome, 262190
- Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549
- Hyperinsulinemic hypoglycemia, familial, 5, 609968
- Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans
- Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities
- Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans
- Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
- DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS
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Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.16
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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
- Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549
- Leprechaunism, 246200
- Rabson-Mendenhall syndrome, 262190
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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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Green
- Other
Phenotypes
- neonatal diabetes
- Donohue syndrome, OMIM:246200, Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968
- Rabson-Mendenhall syndrome, OMIM:262190
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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
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- NHS GMS
- Radboud University Medical Center, Nijmegen
Phenotypes
- Leprechaunism, 246200
- hyperinsulinemic hypoglycaemia
- Autosomal dominant postprandial hypoglycaemia
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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
- UKGTN
Phenotypes
- Diabetes mellitus, insulin-resistant, with acanthosis nigricans
- OMIM 610549
|
Version 4.50
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
Phenotypes
- Diabetes mellitus, insulin-resistant, with acanthosis nigricans, OMIM:610549
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Version 2.57
Latest signed off version: v2.2
(25 Feb 2020)
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans, OMIM:610549
- Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968
- Leprechaunism, OMIM:246200
- Rabson-Mendenhall syndrome, OMIM:262190
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Version 3.140
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- PAGE Additional Gene List
- Expert Review Green
Phenotypes
- DONOHUE SYNDROME 246200
- Hyperinsulinemic hypoglycemia, familial, 5 609968
- Diabetes mellitus, insulin-resistant, with acanthosis nigricans 610549
- Rabson-Mendenhall syndrome 262190
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
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review
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Not set
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Sources
- Expert Review Removed
- Emory Genetics Laboratory
Phenotypes
- Proportionate Short Stature/Small for Gestational Age
Tags
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Version 3.8
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.499
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
|
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
- Leprechaunism, 246200
- Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549
- Rabson-Mendenhall syndrome, 262190
- Hyperinsulinemic hypoglycemia, familial, 5, 609968
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