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  3. BMP7
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Structural eye disease

Gene: BMP7

Amber List (moderate evidence)
BMP7 (bone morphogenetic protein 7)
EnsemblGeneIds (GRCh38): ENSG00000101144
EnsemblGeneIds (GRCh37): ENSG00000101144
OMIM: 112267, Gene2Phenotype
BMP7 is in 3 panels

2 reviews

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

I don't know

Wyatt: three families but incomplete penetrance observed. Null mice have anophthalmia
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability; None

Publications

Mode of pathogenicity
other - please provide details in the comments

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). Wyatt: three families but incomplete penetrance observed. Null mice have anophthalmia
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability; None

Publications

Mode of pathogenicity
Other - please provide details in the comments

Variants in this GENE are reported as part of current diagnostic practice

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

Panel version: 0.75

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability
  • None
OMIM
112267
Clinvar variants
Variants in BMP7
Penetrance
None
Publications
Mode of Pathogenicity
other - please provide details in the comments
Panels with this gene

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 BMP7. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

17 Apr 2019, Gel status: 1

Added New Source, Set mode of pathogenicity, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to BMP7. Mode of pathogenicity for gene BMP7 was changed from to other - please provide details in the comments Added phenotypes Microphthalmia, anophthalmia, systemic abnormalities, intellectual disability; None for gene: BMP7 Publications for gene BMP7 were changed from 20506283 to 20506283; 7590254

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

gene: BMP7 was added gene: BMP7 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: BMP7 were set to 20506283