BMPR1A

bone morphogenetic protein receptor type 1A
OMIM: 601299, ClinGen, DECIPHER

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green BMPR1A in Mendeliome


Version 1.3795

2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • BMPR1A-related juvenile polyposis syndrome MONDO:0700348

Green BMPR1A in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.132

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green BMPR1A in Additional findings_Adult


Level 2: Screening
Version 1.130

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Polyposis, juvenile intestinal, MIM# 174900

Red BMPR1A in Pulmonary Arterial Hypertension


Level 2: Cardiovascular disorders
Version 1.46

1 review Unknown
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • Pulmonary arterial hypertension MONDO:0015924
Tags
  • disputed

Amber BMPR1A in Primary Ovarian Insufficiency_Premature Ovarian Failure

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 0.391

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Primary ovarian insufficiency

Green BMPR1A in Additional findings_Paediatric


Level 2: Screening
Version 0.278

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • BabySeq Category C gene
  • BabySeq Category A gene
Phenotypes
  • Polyposis, juvenile intestinal, MIM# 174900

Green BMPR1A in Incidentalome_PREGEN_DRAFT


Version 0.43

1 review Unknown
Sources
  • NSW Health Pathology
  • Expert Review Green

Red BMPR1A in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • BabySeq Category C gene
  • BabySeq Category A gene
Phenotypes
  • Polyposis, juvenile intestinal, MIM# 174900

Green BMPR1A in Transplant Co-Morbidity


Level 2: Screening
Version 0.20

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance
Phenotypes
  • Polyposis, juvenile intestinal, MIM# 174900

Green BMPR1A in Colorectal Cancer and Polyposis


Level 2: Cancer Predisposition
Version 1.4

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Polyposis syndrome, hereditary mixed, 2, MONDO:0012405
  • Polyposis, juvenile intestinal, MIM#174900