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Mendeliome

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.
Created: 26 Sep 2021, 2:50 a.m. | Last Modified: 26 Sep 2021, 2:50 a.m.
Panel Version: 0.9240

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

26 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NPR3 were set to

26 Sep 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NPR3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NPR3 was added gene: NPR3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NPR3 was set to Unknown