Dilated Cardiomyopathy
Gene: BMP10EnsemblGeneIds (GRCh38): ENSG00000163217
EnsemblGeneIds (GRCh37): ENSG00000163217
OMIM: 608748, Gene2Phenotype
BMP10 is in 3 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
A single family cosegregating NM_014482.3:c.166C > T;p.(Gln56*) with DCM.
Sources: LiteratureCreated: 31 Aug 2024, 6:12 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dilated cardiomyopathy MONDO:0005021
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Dilated cardiomyopathy MONDO:0005021
- OMIM
- 608748
- Clinvar variants
- Variants in BMP10
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: bmp10 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: BMP10 was added gene: BMP10 was added to Dilated Cardiomyopathy. Sources: Literature Mode of inheritance for gene: BMP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMP10 were set to 36673052 Phenotypes for gene: BMP10 were set to Dilated cardiomyopathy MONDO:0005021 Review for gene: BMP10 was set to RED