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  2. Structural eye disease
  3. BMPR1A
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Structural eye disease

Gene: BMPR1A

Amber List (moderate evidence)
BMPR1A (bone morphogenetic protein receptor type 1A)
EnsemblGeneIds (GRCh38): ENSG00000107779
EnsemblGeneIds (GRCh37): ENSG00000107779
OMIM: 601299, Gene2Phenotype
BMPR1A is in 9 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

I don't know

Hocking: one case with superior coloboma
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

I don't know

Promoted from red to amber based on the expert review provided.
Created: 25 Apr 2019, 10:04 a.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Hocking: one case with superior coloboma
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.75

History Filter Activity

25 Apr 2019, Gel status: 2

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Amber was added to BMPR1A. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to BMPR1A. Mode of inheritance for gene BMPR1A was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene BMPR1A were changed from to 29522511

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: BMPR1A was added gene: BMPR1A was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: BMPR1A was set to