Adult solid tumours cancer susceptibility
Gene: BMPR1AEnsemblGeneIds (GRCh38): ENSG00000107779
EnsemblGeneIds (GRCh37): ENSG00000107779
OMIM: 601299, Gene2Phenotype
BMPR1A is in 9 panels
2 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene greenCreated: 2 Aug 2019, 12:34 p.m. | Last Modified: 2 Aug 2019, 12:34 p.m.
Panel Version: 1.5
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
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Hereditary Mixed Polyposis Syndrome
- OMIM
- 601299
- Clinvar variants
- Variants in BMPR1A
- Penetrance
- Complete
- 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
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to BMPR1A.
Panel promoted to version 1.0
Louise Daugherty (Genomics England Curator)Clare Turnbull: Tumor Suppressor.
Added New Source
Ellen McDonagh (Genomics England Curator)BMPR1A was added to Adult solid tumourspanel. Source: Expert Review Green
Created
Ellen McDonagh (Genomics England Curator)BMPR1A was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)BMPR1A was added to Adult solid tumourspanel. Sources: Expert list