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  2. Craniosynostosis
  3. BMP7
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Craniosynostosis

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)

rs6127972 identified as a susceptibility SNP for non-syndromic metopic craniosynostosis.
Sources: Literature
Created: 24 Oct 2020, 3:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Non-syndromic metopic craniosynostosis

Publications

Mode of pathogenicity
Other

Created: 24 Oct 2020, 3:07 a.m.

Panel version: 1.11

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Non-syndromic metopic craniosynostosis
OMIM
112267
Clinvar variants
Variants in BMP7
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

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 Craniosynostosis. 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 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