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  2. Colorectal Cancer and Polyposis
  3. BMPR1A
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Colorectal Cancer and Polyposis

Gene: BMPR1A

Green List (high evidence)
BMPR1A (bone morphogenetic protein receptor type 1A)
EnsemblGeneIds (GRCh38): ENSG00000107779
EnsemblGeneIds (GRCh37): ENSG00000107779
OMIM: 601299, Gene2Phenotype
BMPR1A is in 9 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Colorectal cancers and/or polyposis reported in condition.
Sources: Expert list, Expert Review
Created: 25 Sep 2024, 10:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Colorectal cancer, MONDO:0005575; Polyposis, MONDO:0000147; Polyposis syndrome, hereditary mixed, 2, MONDO:0012405; Polyposis, juvenile intestinal, MIM#174900

Created: 25 Sep 2024, 10:14 p.m.

Panel version: 0.10

Details

Mode of Inheritance
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
OMIM
601299
Clinvar variants
Variants in BMPR1A
Penetrance
None
Panels with this gene

History Filter Activity

9 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: bmpr1a has been classified as Green List (High Evidence).

25 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: bmpr1a has been classified as Green List (High Evidence).

25 Sep 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Chirag Patel (Genetic Health Queensland)

gene: BMPR1A was added gene: BMPR1A was added to Colorectal Cancer and Polyposis. Sources: Expert list,Expert Review Mode of inheritance for gene: BMPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: BMPR1A were set to Polyposis syndrome, hereditary mixed, 2, MONDO:0012405; Polyposis, juvenile intestinal, MIM#174900 Review for gene: BMPR1A was set to GREEN