Genomics England
GMS Panels
Panels
Genes and Entities

BMPR1B

bone morphogenetic protein receptor type 1B
OMIM: 603248
PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
BRACHYDACTYLY TYPE A2 112600
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Acromesomelic dysplasia, Demirhan type, OMIM:609441
Green
in Limb disorders
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.2
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
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 7.0
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
Green
in Structural eye disease
R-numbers: R36
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ocular coloboma