BMPR1B

bone morphogenetic protein receptor type 1B
OMIM: 603248
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BRACHYDACTYLY TYPE A2 112600
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acromesomelic dysplasia, Demirhan type, OMIM:609441
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acromesomelic dysplasia, Demirhan type, OMIM:609441, Brachydactyly, type A1, D, OMIM:616849, Brachydactyly, type A2, OMIM:112600
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 3.1
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Acromesomelic dysplasia, Demirhan type, OMIM:609441, Brachydactyly, type A1, D, OMIM:616849, Brachydactyly, type A2, OMIM:112600