Adult solid tumours for rare disease
Gene: BMPR1A
BMPR1A (bone morphogenetic protein receptor type 1A)
EnsemblGeneIds (GRCh38): ENSG00000107779
EnsemblGeneIds (GRCh37): ENSG00000107779
OMIM: 601299, Gene2Phenotype
BMPR1A is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000107779
EnsemblGeneIds (GRCh37): ENSG00000107779
OMIM: 601299, Gene2Phenotype
BMPR1A is in 9 panels
1 review
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary Mixed Polyposis Syndrome
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Hereditary Mixed Polyposis Syndrome
- OMIM
- 601299
- Clinvar variants
- Variants in BMPR1A
- Penetrance
- None
- Panels with this gene
-
- GI tract tumours
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Structural eye disease
- Inherited polyposis and early onset colorectal cancer - germline testing
- Childhood solid tumours cancer susceptibility
- Anophthalmia or microphthalmia
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
History Filter Activity
5 Mar 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)5th March 2018 - promoted to version 1 after expert review and internal clinical review.
19 Dec 2017, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)BMPR1A was added to Adult solid tumours for rare disease panel. Sources: Expert Review Green,Expert list
19 Dec 2017, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)BMPR1A was created by Ellen McDonagh