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Level 3: Disorders of function
Level 2: Renal and urinary tract disorders
Version 1.21
Component of the following Super Panels:
Renal superpanel - broad
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Radboud University Medical Center, Nijmegen
Phenotypes
- Pulmonary hypertension, familial primary, 1, with or without HHT, 178600, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600, Pulmonary venoocclusive disease 1, 265450
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Level 3: Interstitial lung disorders
Level 2: Respiratory disorders
Version 1.31
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review
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Not set
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Sources
- Expert Review Red
- Emory Genetics Laboratory
Phenotypes
- Pulmonary hypertension, familial primary, 1, with or without HHT
- Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated
- Pulmonary venoocclusive disease 1
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Level 3: Vascular lung disorders
Level 2: Respiratory disorders
Version 3.5
Latest signed off version: v3.0
(30 Nov 2022)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Amber
- NHS GMS
Phenotypes
- Pulmonary hypertension, familial primary, 1, with or without HHT, 178600
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Level 3: Pulmonary heart disease
Level 2: Cardiovascular disorders
Version 3.5
Latest signed off version: v3.0
(30 Nov 2022)
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- NHS GMS
- Expert list
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Eligibility statement prior genetic testing
- Literature
Phenotypes
- Pulmonary hypertension, familial primary, 1, with or without HHT, 178600
- Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600
- Idiopathic pulmonary arterial hypertension
- IPAH
- Heritable pulmonary arterial hypertension
- HPAH
- Pulmonary arterial hypertension
- Pulmonary venoocclusive disease 1, 265450
- PVOD
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