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
|
Sources
- Expert Review Removed
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- MODY, type I, 125850
- {Diabetes mellitus, noninsulin-dependent}, 125853
- Maturity Onset Diabetes of the Young
- Maturity Onset Diabetes of the Young (MODY)
- Monogenic Diabetes
- Maturity-Onset Diabetes Of The Young
Tags
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- MODY, type I, 125850
- {Diabetes mellitus, noninsulin-dependent}, 125853
- Maturity Onset Diabetes of the Young
- Maturity-onset diabetes of the young (MODY)
- Maturity-Onset Diabetes Of The Young
- MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 1
- MODY1
- #616026
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.13
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Green
- Expert
Phenotypes
- Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
|
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, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Hyperinsulinism, Dominant
- Autosomal dominant Hyperinsulinism
- MODY, type I, 125850
|
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
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- MODY, type I, 125850
- Maturity Onset Diabetes of the Young
- OMIM 616026
|
Version 2.57
Latest signed off version: v2.2
(25 Feb 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- {Diabetes mellitus, noninsulin-dependent}, OMIM:125853
- MODY, type I , OMIM:125850
- Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
|
Version 3.41
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Amber
Phenotypes
- Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
Tags
|
Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY
- HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1
|
Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- HNF4A-RELATED MATURITY-ONSET DIABETES OF THE YOUNG TYPE 1 125850
- ATYPICAL DOMINANT FANCONI SYNDROME WITH MODY 315353
|
Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 4.17
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Expert list
Phenotypes
- Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.536
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- MODY, type I, 125850
- {Diabetes mellitus, noninsulin-dependent}, 125853
- Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026
|
Version 0.8
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- Expert review red
- Literature
Phenotypes
- MODY type I
- Nephropathy of unknown origin
- MIM 125850
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- MODY, type I, 125850
- Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, 616026
|