Version 0.149
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Imprinting GeCIP Subdomain
Phenotypes
- Diabetes mellitus, transient neonatal 1 OMIM:601410
- diabetes mellitus, transient neonatal, 1MONDO:0011073
- IUGR
- Multi Locus Imprinting Disturbance
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Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.11
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review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Removed
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Diabetes mellitus, transient neonatal, 1, 601410
- Transient Neonatal Diabetes, Recessive
- Neonatal Diabetes
Tags
|
Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.59
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Phenotypes consistent with hypomethylation at multiple imprinted loci
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Diabetes mellitus, transient neonatal, 1, 601410
- Transient Neonatal Diabetes, Recessive
- Transient Neonatal Diabetes
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Diabetes mellitus, transient neonatal, 1, OMIM:601410
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Transient Neonatal Diabetes, Recessive
- Diabetes mellitus, transient neonatal, 1, 601410
|
Version 2.57
Latest signed off version: v2.2
(25 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- NHS GMS
- Expert Review Green
Phenotypes
- transient neonatal diabetes mellitus (disease), MONDO:0020525
- Diabetes mellitus, transient neonatal, 1, OMIM:601410
|
Version 3.157
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL
|
Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- DIABETES MELLITUS, 6Q24-RELATED TRANSIENT NEONATAL 601410
|
Version 3.89
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Diabetes mellitus, transient neonatal 1, OMIM:601410
|
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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Victorian Clinical Genetics Services
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Diabetes mellitus, transient neonatal, 1, 601410
|
Version 1.184
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Diabetes mellitus, transient neonatal, 1, 601410
|