Skeletal dysplasia
Gene: BMPR1B
Listed in acromesomelic dysplasias, brachydactylies (without extraskeletal manifestations) gp of SD. AT least 3 cases reported. 616849 & 112600 AD. 112600 listed in brachydactylies (without extraskeletal manifestations gp of SD) - only 2 cases reported in OMIM, one is non-penetrant. 616849 not listed in SD nososlogy paper: at least 3 cases reported by Lehmann et al 2003. Green for 2/3 disorders.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acromesomelic dysplasia, Demirhan type 609441; Brachydactyly, type A1, D 616849; Brachydactyly, type A2 112600
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: BMPR1B; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with Brachydactyly, type A2 112600 in G2P. Numerous variants reported in these phenotypes.Created: 13 Jul 2016, 7:50 a.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acromesomelic dysplasia, Demirhan type 609441; Brachydactyly, type A1, D 616849; Brachydactyly, type A2 112600
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: BMPR1B were changed from Brachydactyly, type A1, D 616849; Brachydactyly, type A2 112600; Acromesomelic dysplasia, Demirhan type 609441 to Acromesomelic dysplasia, Demirhan type, OMIM:609441; Brachydactyly, type A1, D, OMIM:616849; Brachydactyly, type A2, OMIM:112600
Added phenotypes Brachydactyly, type A1, D 616849; Brachydactyly, type A2 112600; Acromesomelic dysplasia, Demirhan type 609441 for gene: BMPR1B
Source NHS GMS was added to BMPR1B. 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).
Mode of inheritance for BMPR1B was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for BMPR1B were set to Acromesomelic dysplasia, Demirhan type 609441; Brachydactyly, type A1, D 616849; Brachydactyly, type A2 112600
BMPR1B was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
BMPR1B was added to Unexplained skeletal dysplasiapanel. Sources:
BMPR1B was created by sleigh