Primary ovarian insufficiency

Gene: BMPR1B-AS1

No list

BMPR1B-AS1 (BMPR1B antisense RNA 1 (head to head))
EnsemblGeneIds (GRCh38): ENSG00000249599
EnsemblGeneIds (GRCh37): ENSG00000249599
BMPR1B-AS1 is in 1 panel

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Removed this gene: this was added accidently, and should be BMPR1B.
Created: 15 Aug 2017, 1:12 p.m.

Helen Savage (Congenica Ltd)

Red List (low evidence)

Both publications referred to in previous reviews of this gene actually refer to BMPR1B, not BMPR1B-AS1. The relevance of BMPR1B-AS1 to this disorder is therefore not clear.

BMPR1B is missing from this panel.
Created: 26 Jun 2017, 9:52 a.m.

Arianna Tucci (Genomics England Curator)

I don't know

Comment when marking as ready: Marked as amber as the association with Acromesomelic dysplasia has been reported in one family only.
2 variants reported in sporadic POI.
Created: 22 May 2017, 9:07 a.m.
Biallelic mutations cause Acromesomelic dysplasia Demirhan type (OMIM 609441), of which POI is a feature. Recently, a whole exome sequencing study in a large cohort of patients with non syndromic POI identifies two monoallelic missense variants in BMPR1B in two patients. Given the frequency of the two variants in Exac and the lack of segregation data, I am unsure of their association with non syndromic POI
Created: 18 May 2017, 8:49 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
premature ovarian insufficiency

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Literature
Phenotypes
  • premature ovarian insufficiency
Clinvar variants
Variants in BMPR1B-AS1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Aug 2017, Gel status: 0

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been removed from the panel.

31 May 2017, Gel status: 2

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: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

22 May 2017, Gel status: 2

Set publications

Arianna Tucci (Genomics England Curator)

Publications for BMPR1B-AS1 were set to 28505269; 15805157

22 May 2017, Gel status: 2

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

18 May 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

BMPR1B-AS1 was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature

18 May 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

BMPR1B-AS1 was created by arianna