Gene Symbol:
BMPR1B
HGNC:1077
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
4q22.3
Filters:

Definitive classifications

brachydactyly type A2
Submitted as: OMIM:112600
AR
07/22/2015
Evaluated
09/11/2023
Submitted

Strong classifications

acromesomelic dysplasia 3
Submitted as: OMIM:609441
AR
07/25/2019
Evaluated
11/30/2023
Submitted
brachydactyly type A2
Submitted as: OMIM:112600
AD
01/28/2021
Evaluated
11/30/2023
Submitted

Moderate classifications

brachydactyly type A1D
Submitted as: OMIM:616849
AD
04/02/2018
Evaluated
12/24/2020
Submitted
acromesomelic dysplasia 3
Submitted as: OMIM:609441
AR
04/02/2018
Evaluated
12/24/2020
Submitted

Supportive classifications

acromesomelic dysplasia 2A
Submitted as: Orphanet:2098
AR
09/14/2021
Evaluated
09/14/2021
Submitted
acromesomelic dysplasia 2B
Submitted as: Orphanet:2639
AR
09/14/2021
Evaluated
09/14/2021
Submitted
brachydactyly type A1
Submitted as: Orphanet:93388
AD
09/14/2021
Evaluated
09/14/2021
Submitted
brachydactyly type A2
Submitted as: Orphanet:93396
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Disputed Evidence classifications

pulmonary arterial hypertension
Unknown
10/18/2022
Evaluated
04/21/2024
Submitted

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