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
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Removed
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
- Neonatal Diabetes
Tags
|
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, neonatal, with congenital hypothyroidism, 610199 -3
- Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
- Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
- Neonatal Diabetes mellitus with congenital hypothyroidism
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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
|
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, neonatal, with congenital hypothyroidism, OMIM:610199
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.67
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
- Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3
|
Version 2.57
Latest signed off version: v2.2
(25 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Diabetes Mellitus, Neonatal, with Congenital Hypothyroidism
- Neonatal Diabetes mellitus with congenital hypothyroidism
- Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
- Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 -3
Tags
|
Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- PAGE DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- DIABETES MELLITUS NEONATAL WITH CONGENITAL HYPOTHYROIDISM
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Level 3: Craniosynostosis syndromes
Level 2: Skeletal disorders
Version 4.179
Latest signed off version: v4.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- craniosynostosis, MONDO:0015469
|
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 NEONATAL WITH CONGENITAL HYPOTHYROIDISM 610199
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
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
- Expert Review Green
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199
|
Level 3: Thyroid disorders
Level 2: Endocrine disorders
Version 2.18
Latest signed off version: v2.2
(25 Feb 2020)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Congenital hypothyroidism
- Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199
- neonatal non-autoimmune diabetes mellitus
- severe congenital hypothyroidism
- variable cholestasis
- hepatic fibrosis
- congenital glaucoma
- polycystic kidneys
- dysmorphic facies
- sensorineural deafness
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Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199
|