Skeletal dysplasia
Gene: BMP1

BMP1 (bone morphogenetic protein 1)
EnsemblGeneIds (GRCh38): ENSG00000168487
EnsemblGeneIds (GRCh37): ENSG00000168487
OMIM: 112264, Gene2Phenotype
BMP1 is in 3 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR. Not listed in SD nosology paper. Severe form of OI. At least 8 unrelated cases reported since 2012. Green if considered an SD?; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XIII, 614856

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: BMP1; Initial rating suggestion: Green if SD
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Numerous variants reported in this phenotype
Created: 13 Jul 2016, 7:46 a.m.

Created: 13 Jul 2016, 7:46 a.m.

Panel version: 0.664

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteogenesis imperfecta, type XIII 614856

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

Created: 17 Jun 2016, 8:02 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Radboud University Medical Center, Nijmegen
Illumina TruGenome Clinical Sequencing Services
Expert

Phenotypes

Osteogenesis imperfecta, type XIII, 614856

OMIM

112264

Clinvar variants

Variants in BMP1

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Osteogenesis imperfecta, type XIII, 614856 for gene: BMP1

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to BMP1. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4