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  2. Differences of Sex Development
  3. BMP7
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Differences of Sex Development

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)

Two individuals with likely deleterious variants identified in a cohort of individuals with MRKHS.
Sources: Literature
Created: 4 Feb 2021, 8:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)

Publications

Created: 4 Feb 2021, 8:22 p.m.

Panel version: 0.187

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS)
OMIM
112267
Clinvar variants
Variants in BMP7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2021, 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).

4 Feb 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: BMP7 was added gene: BMP7 was added to Differences of Sex Development. Sources: Literature Mode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMP7 were set to 33434492 Phenotypes for gene: BMP7 were set to Mayer-Rokitansky-Küster-Hauser syndrome (MRKHS) Review for gene: BMP7 was set to RED