Level 3: Urea Cycle disorders
Level 2: Metabolic disorders
Version 1.13
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hyperinsulinism-hyperammonemia syndrome, 606762
|
Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 2.10
Latest signed off version: v2.3
(25 Feb 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- NHS GMS
- Expert Review Green
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hyperinsulinism-hyperammonemia syndrome, 606762
- Hyperinsulinism, Dominant
|
Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.542
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Literature
Phenotypes
- Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
- Hyperinsulinism-hyperammonemia syndrome, 606762
|
Version 2.263
Latest signed off version: v2.3
(17 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Hyperinsulinemic hypoglycemia and hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
- Hyperinsulinism-hyperammonemia syndrome, 606762
|
Version 1.94
Latest signed off version: v1.17
(11 Nov 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- NHS GMS
- Expert Review Red
Phenotypes
- Hyperinsulinism-hyperammonemia syndrome, 606762
|
Version 1.905
Latest signed off version: v1.92
(21 Aug 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- HYPERINSULINISM-HYPERAMMONEMIA SYNDROME
|
Version 2.78
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- HYPERINSULINISM-HYPERAMMONEMIA SYNDROME 606762
|
Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.572
Latest signed off version: v2.2
(13 Feb 2020)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
Phenotypes
- Hyperinsulinism-hyperammonemia syndrome, 606762
- epilepsy
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2
(13 Feb 2020)
Component of the following Super Panels:
Hypotonic infant
Paediatric disorders
White matter disorders - childhood onset
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Gene2Phenotype confirmed gene with ID HPO
|
Level 3: Mitochondrial
Level 2: Metabolic disorders
Version 2.117
Latest signed off version: v2.4
(17 Feb 2020)
Component of the following Super Panels:
White matter disorders - childhood onset
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
Phenotypes
- Hyperinsulinism-hyperammonemia syndrome, 606762
|
Version 1.246
Latest signed off version: v1.137
(5 Aug 2021)
|
review
|
Not set
|
Sources
- Expert Review Red
- London North GLH
|
Version 1.127
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hyperinsulinism-hyperammonemia syndrome, 606762
|