Hereditary haemorrhagic telangiectasiaGene: BMPR2
Single case report of 36 year old woman with a germline nonsense mutation in BMPR2. She had pulmonary arterial hypertension, but was also found to have multiple pulmonary arteriovenous malformations and nasal telangiectases.
Created: 18 Jan 2019, 9:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Pulmonary hypertension, familial primary, 1, with or without HHT
Comment on phenotypes: added phenotype and MIM
Created: 21 Jan 2019, 11:25 a.m.
From GMS Respiratory Specialist Test Group webex call 18th Jan 2019 : downgraded from Green to Amber (ref: PMID:18792970)
Created: 21 Jan 2019, 11:23 a.m.
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted BMPR2; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PAH & HHT gene; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 6 Dec 2018, 12:36 p.m.
Phenotypes for gene: BMPR2 were changed from to Pulmonary hypertension, familial primary, 1, with or without HHT, 178600
Mode of inheritance for gene: BMPR2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: bmpr2 has been classified as Amber List (Moderate Evidence).
Publications for gene: BMPR2 were set to
Source NHS GMS was added to BMPR2.
Gene: bmpr2 has been classified as Red List (Low Evidence).
gene: BMPR2 was added gene: BMPR2 was added to Hereditary haemorrhagic telangiectasia. Sources: Mode of inheritance for gene: BMPR2 was set to