Additional findings_Adult
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
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Polyposis, juvenile intestinal, MIM# 174900
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Melbourne Genomics Health Alliance
- Phenotypes
-
- Polyposis, juvenile intestinal, MIM# 174900
- OMIM
- 601299
- Clinvar variants
- Variants in BMPR1A
- Penetrance
- None
- Panels with this gene
History Filter Activity
30 Jul 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: bmpr1a has been classified as Green List (High Evidence).
30 Jul 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: BMPR1A were changed from to Polyposis, juvenile intestinal, MIM# 174900
30 Jul 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: BMPR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: BMPR1A was added gene: BMPR1A was added to Adult additional findings_MelbGenomics. Sources: Expert Review Green,Melbourne Genomics Health Alliance Mode of inheritance for gene: BMPR1A was set to Unknown