Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: BMP7

Red List (low evidence)

BMP7 (bone morphogenetic protein 7)
EnsemblGeneIds (GRCh38): ENSG00000101144
EnsemblGeneIds (GRCh37): ENSG00000101144
OMIM: 112267, Gene2Phenotype
BMP7 is in 4 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Non-syndromic metopic craniosynostosis: PMID 32266521 reports rs6127972 as a susceptibility SNP for non-syndromic metopic craniosynostosis

CAKUT: PMID 24429398 1 family with mouse model in large cohort of CAKUT.
Sources: Literature

PMID 33434492: Two individuals with likely deleterious variants identified in a cohort of individuals with MRKHS.
Created: 24 Oct 2020, 3:10 a.m. | Last Modified: 4 Feb 2021, 8:24 p.m.
Panel Version: 0.6211

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract; Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Non-syndromic metopic craniosynostosis
  • Congenital abnormalities of the kidneys and urinary tract
  • Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
OMIM
112267
Clinvar variants
Variants in BMP7
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

4 Feb 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BMP7 were changed from Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract to Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract; Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)

4 Feb 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BMP7 were set to 32266521; 24429398

4 Feb 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BMP7 were changed from Non-syndromic metopic craniosynostosis to Non-syndromic metopic craniosynostosis; Congenital abnormalities of the kidneys and urinary tract

24 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bmp7 has been classified as Red List (Low Evidence).

24 Oct 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BMP7 was added gene: BMP7 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMP7 were set to 32266521; 24429398 Phenotypes for gene: BMP7 were set to Non-syndromic metopic craniosynostosis Mode of pathogenicity for gene: BMP7 was set to Other Review for gene: BMP7 was set to RED