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  2. Primary Ovarian Insufficiency_Premature Ovarian Failure
  3. BMP15
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Primary Ovarian Insufficiency_Premature Ovarian Failure

Gene: BMP15

Green List (high evidence)
BMP15 (bone morphogenetic protein 15)
EnsemblGeneIds (GRCh38): ENSG00000130385
EnsemblGeneIds (GRCh37): ENSG00000130385
OMIM: 300247, Gene2Phenotype
BMP15 is in 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Only affects females, variants inherited from asymptomatic fathers. Over 50 individuals reported.
Created: 13 Dec 2020, 6:12 a.m. | Last Modified: 13 Dec 2020, 6:12 a.m.
Panel Version: 0.167

Mode of inheritance
Other

Phenotypes
Ovarian dysgenesis 2, MIM# 300510; Premature ovarian failure 4, MIM# 300510

Publications

Created: 13 Dec 2020, 6:12 a.m.
Last Modified: 13 Dec 2020, 6:12 a.m.
Panel version: 0.167

Details

Mode of Inheritance
Other
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Ovarian dysgenesis 2, MIM# 300510
  • Premature ovarian failure 4, MIM# 300510
OMIM
300247
Clinvar variants
Variants in BMP15
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bmp15 has been classified as Green List (High Evidence).

13 Dec 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: BMP15 were changed from Ovarian dysgenesis 2,300510; Premature ovarian failure 4300510 to Ovarian dysgenesis 2, MIM# 300510; Premature ovarian failure 4, MIM# 300510

13 Dec 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: BMP15 were set to

13 Dec 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: BMP15 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to Other

17 Jun 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: BMP15 was added gene: BMP15 was added to Amenorrhoea. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: BMP15 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: BMP15 were set to Ovarian dysgenesis 2,300510; Premature ovarian failure 4300510