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  2. Extreme early-onset hypertension
  3. BMPR2
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Extreme early-onset hypertension

Gene: BMPR2

Red List (low evidence)
BMPR2 (bone morphogenetic protein receptor type 2)
EnsemblGeneIds (GRCh38): ENSG00000204217
EnsemblGeneIds (GRCh37): ENSG00000204217
OMIM: 600799, Gene2Phenotype
BMPR2 is in 5 panels

2 reviews

Fiona Karet (Universit y of Cambridge)

Red List (low evidence)

Phenotypes
Pulmonary HT

Created: 20 Jun 2016, 6:46 a.m.

Panel version: 0.78

Sarah Leigh (Genomics England Curator)

Comment on phenotypes: Not sure that these are relevant phenotypes
Created: 6 Jun 2016, 1:50 p.m.
Created: 6 Jun 2016, 1:50 p.m.

Panel version: 0.25

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
OMIM
600799
Clinvar variants
Variants in BMPR2
Penetrance
Complete
Panels with this gene

History Filter Activity

3 May 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT, 178600, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600, Pulmonary venoocclusive disease 1, 265450

3 Aug 2016, Gel status: 1

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted 03/08/2016

7 Jun 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for BMPR2 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Jun 2016, Gel status: 1

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for BMPR2 were set to Pulmonary hypertension, familial primary, 1, with or without HHT, 178600, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600, Pulmonary venoocclusive disease 1, 265450

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

BMPR2 was added to Extreme early-onset hypertensionpanel. Sources: Radboud University Medical Center, Nijmegen