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Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.20
Component of the following Super Panels:
Renal superpanel - broad
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Hyperaldosteronism, familial, type IV 617027
- {Epilepsy, childhood absence, susceptibility to, 6} 611942
- {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942
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Version 0.22
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review
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Not set
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Sources
- Expert Review Amber
- SFARI
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Version 2.78
Latest signed off version: v2.2
(13 Feb 2020)
Component of the following Super Panels:
Paediatric disorders
|
review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- DD-Gene2Phenotype
- Expert Review Red
Phenotypes
- EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6 611942
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Level 3: Inherited Epilepsy Syndromes
Level 2: Neurology and neurodevelopmental disorders
Version 2.572
Latest signed off version: v2.2
(13 Feb 2020)
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review
|
Not set
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Sources
- Wessex and West Midlands GLH
- NHS GMS
- Expert Review Amber
- Expert
- Literature
Phenotypes
- Hyperaldosteronism, familial, type IV 617027
- {Epilepsy, childhood absence, susceptibility to, 6} 611942
- {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942
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|
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
- Victorian Clinical Genetics Services
- Expert Review Red
Phenotypes
- Hyperaldosteronism, familial, type IV 617027
- {Epilepsy, childhood absence, susceptibility to, 6} 611942
- {Epilepsy, idiopathic generalized, susceptibility to, 6} 611942
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