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  3. BMP15
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Primary ovarian insufficiency

Gene: BMP15

Green List (high evidence)
BMP15 (bone morphogenetic protein 15)
EnsemblGeneIds (GRCh38): ENSG00000130385
EnsemblGeneIds (GRCh37): ENSG00000130385
OMIM: 300247, Gene2Phenotype
BMP15 is in 2 panels

3 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Clearly important cause of POI phenotype
Created: 9 Jun 2017, 1:37 p.m.
Created: 9 Jun 2017, 1:37 p.m.

Panel version: 1.0

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Marked as green as clearly associated with the phenotype
Created: 22 May 2017, 8:35 a.m.
Monoallelic mutations in females clearly associated with the phenotype. At least 3 missense mutations observed in patients and never in controls
Created: 30 Mar 2017, 4:03 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Premature ovarian failure, 300510

Publications

Created: 30 Mar 2017, 4:03 p.m.

Panel version: 0.6

Ellen McDonagh (Genomics England Curator)

This gene is also on The University of Chicago Genetic Services Laboratories Next Generation Sequencing Panel for Premature Ovarian Failure.
Created: 13 Jun 2016, 2:38 p.m.
Created: 13 Jun 2016, 2:38 p.m.

Panel version: 0.2

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Other
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • premature ovarian failure
  • Ovarian dysgenesis 2,300510
  • Premature ovarian failure 4300510
  • Ovarian Dysgenesis
OMIM
300247
Clinvar variants
Variants in BMP15
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoting to Version 1 on 31-05-2017, after internal curation and review.

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 May 2017, Gel status: 4

Set Mode of Inheritance

Arianna Tucci (Genomics England Curator)

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

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Jun 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

BMP15 was added to Early onset familial premature ovarian insufficiencypanel. Source: Other

13 Jun 2016, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

BMP15 was added to Early onset familial premature ovarian insufficiencypanel. Source: Illumina TruGenome Clinical Sequencing Services

13 Jun 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

BMP15 was added to Early onset familial premature ovarian insufficiencypanel. Source: Radboud University Medical Center, Nijmegen

13 Jun 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BMP15 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Expert list

13 Jun 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BMP15 was created by ellenmcdonagh