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  3. NPR3
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Aortopathy_Connective Tissue Disorders

Gene: NPR3

Green List (high evidence)
NPR3 (natriuretic peptide receptor 3)
EnsemblGeneIds (GRCh38): ENSG00000113389
EnsemblGeneIds (GRCh37): ENSG00000113389
OMIM: 108962, Gene2Phenotype
NPR3 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

4 individuals from three unrelated families.
Sources: Literature
Created: 8 Dec 2019, 3:45 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Boudin-Mortier syndrome, MIM#619543; Tall stature, skeletal abnormalities, aortic dilatation

Publications

Created: 8 Dec 2019, 3:45 a.m.

Panel version: 1.54

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Boudin-Mortier syndrome, MIM#619543
  • Tall stature, skeletal abnormalities, aortic dilatation
OMIM
108962
Clinvar variants
Variants in NPR3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NPR3 were changed from Tall stature, skeletal abnormalities, aortic dilatation to Boudin-Mortier syndrome, MIM#619543; Tall stature, skeletal abnormalities, aortic dilatation

8 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: npr3 has been classified as Green List (High Evidence).

8 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: npr3 has been classified as Green List (High Evidence).

8 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NPR3 was added gene: NPR3 was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Literature Mode of inheritance for gene: NPR3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPR3 were set to 30032985 Phenotypes for gene: NPR3 were set to Tall stature, skeletal abnormalities, aortic dilatation Review for gene: NPR3 was set to GREEN