Limb disorders
Gene: BMPR1BComment 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 Acromesomelic dysplasia, Demirhan type, 609441; Brachydactyly, type A1, D 616849; Brachydactyly, type A2, 112600 to Acromesomelic dysplasia, Demirhan type, OMIM:609441; Brachydactyly, type A1, D, OMIM:616849; Brachydactyly, type A2, OMIM:112600
Ana Beleza: Tier 1
Phenotypes for BMPR1B were set to Acromesomelic dysplasia, Demirhan type, 609441; Brachydactyly, type A1, D 616849; Brachydactyly, type A2, 112600
Expert Review Green was added to BMPR1B. Panel: Limb disorders UKGTN was added to BMPR1B. Panel: Limb disorders Radboud University Medical Center, Nijmegen was added to BMPR1B. Panel: Limb disorders Illumina TruGenome Clinical Sequencing Services was added to BMPR1B. Panel: Limb disorders Expert list was added to BMPR1B. Panel: Limb disorders Emory Genetics Laboratory was added to BMPR1B. Panel: Limb disorders Model of inheritance for gene BMPR1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
London South East RGC GSTT was added to BMPR1B. Panel: Limb disorders
BMPR1B was added to Limb disorders panel. Sources: Viapath
BMPR1B was created by Ellen McDonagh