Skeletal dysplasia
Gene: BMP1
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 LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis imperfecta, type XIII, 614856
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 SDCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Numerous variants reported in this phenotypeCreated: 13 Jul 2016, 7:46 a.m.
Tier 1Created: 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
Added phenotypes Osteogenesis imperfecta, type XIII, 614856 for gene: BMP1
Source NHS GMS was added to BMP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for BMP1 were set to Osteogenesis imperfecta, type XIII, 614856
BMP1 was added to Unexplained skeletal dysplasiapanel. Source: Expert BMP1 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen BMP1 was added to Unexplained skeletal dysplasiapanel. Source: Illumina TruGenome Clinical Sequencing Services BMP1 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene BMP1 was set to BIALLELIC, autosomal or pseudoautosomal
BMP1 was created by sleigh
BMP1 was added to Unexplained skeletal dysplasiapanel. Sources: