This Panel is marked as Internal
Tumour predisposition - adult onset
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Adult solid tumours for rare disease (Version 1.21)
- Phenotypes
-
- Hereditary Mixed Polyposis Syndrome
- OMIM
- 601299
- Clinvar variants
- Variants in BMPR1A
- Penetrance
- None
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Colorectal cancer pertinent cancer susceptibility
- Adult solid tumours for rare disease
- Anophthalmia or microphthalmia
- Inherited polyposis and early onset colorectal cancer - germline testing
- GI tract tumours
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Structural eye disease
History Filter Activity
31 Jan 2019, Gel status: 4
Panel promoted to version 1.0
Rebecca Foulger (Genomics England curator)Panel checked against two component panels (Adult solid tumours for rare disease v1.21 and Familial Tumours Syndromes of the central & peripheral Nervous system v1.8) and promoted to Version 1.0.
17 Dec 2018, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: BMPR1A was added gene: BMPR1A was added to Tumour predisposition - adult onset. Sources: Adult solid tumours for rare disease (Version 1.21),Expert Review Green Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BMPR1A were set to Hereditary Mixed Polyposis Syndrome