Hereditary haemorrhagic telangiectasia

Gene: BMPR2

Amber List (moderate evidence)

BMPR2 (bone morphogenetic protein receptor type 2)
EnsemblGeneIds (GRCh38): ENSG00000204217
EnsemblGeneIds (GRCh37): ENSG00000204217
OMIM: 600799, Gene2Phenotype
BMPR2 is in 4 panels

2 reviews

Anna de Burca (Genomics England Curator)

Red List (low evidence)

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

Phenotypes
Pulmonary hypertension, familial primary, 1, with or without HHT

Publications

Louise Daugherty (Genomics England Curator)

I don't know

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Pulmonary hypertension, familial primary, 1, with or without HHT, 178600
OMIM
600799
Clinvar variants
Variants in BMPR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jan 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: BMPR2 were changed from to Pulmonary hypertension, familial primary, 1, with or without HHT, 178600

21 Jan 2019, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

18 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

Gene: bmpr2 has been classified as Amber List (Moderate Evidence).

18 Jan 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: BMPR2 were set to

6 Dec 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to BMPR2.

6 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: bmpr2 has been classified as Red List (Low Evidence).

6 Dec 2018, Gel status: 0

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: BMPR2 was added gene: BMPR2 was added to Hereditary haemorrhagic telangiectasia. Sources: Mode of inheritance for gene: BMPR2 was set to