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Intellectual disability

Gene: BMP15

Red List (low evidence)

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

3 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Candidate gene (PMID 26350204). Associated with phenotype in OMIM, not in G2P. At least 6 variants reported, however, the phenotypes donot include intellectual disability
Created: 15 Dec 2017, 9:38 a.m.

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

Publications

Caroline Wright (Sanger)

Red List (low evidence)

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

Lu Raymond (university of cambridge )

Red List (low evidence)

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 Red
Phenotypes
  • Ovarian dysgenesis 2 300510
  • Premature ovarian failure 4 300510
OMIM
300247
Clinvar variants
Variants in BMP15
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Jan 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene BMP15 was set to ['26350204']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

BMP15 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

BMP15 was added to Intellectual disabilitypanel. Sources: Expert Review Red