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Fetal anomalies

Gene: NPR2

Green List (high evidence)
NPR2 (natriuretic peptide receptor 2)
EnsemblGeneIds (GRCh38): ENSG00000159899
EnsemblGeneIds (GRCh37): ENSG00000159899
OMIM: 108961, Gene2Phenotype
NPR2 is in 6 panels

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic NPR2 variants cause acromesomelic dysplasia, type Maroteaux, disproportionate acromesomelic short stature. Newborns with AMDM have lengths within 2 SDs of the mean, adults with AMDM have heights that are >5 SDs below the mean. Mild shortening of long bones may be detected in some affected infants by clinical and radiographic examination.

Short stature with nonspecific skeletal abnormalities
Monoallelic NPR2 variants cause a milder growth disorder; the height SDS ranges from –1.5 to –4.3.

Epiphyseal chondrodysplasia, Miura type (MIM#615923)
Monoallelic NPR2 kinase activating variant (p.Arg655Cys) identified in an individual with Epiphyseal chondrodysplasia, Miura type. The proband’s length was +6 SDS at birth and +5.2 SDS at 53 years (221cm).
Created: 13 Dec 2021, 2:14 a.m. | Last Modified: 13 Dec 2021, 2:14 a.m.
Panel Version: 0.1240

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Acromesomelic dysplasia 1, Maroteaux type (MIM#602875); Epiphyseal chondrodysplasia, Miura type (MIM#615923); Short stature with nonspecific skeletal abnormalities (MIM#616255)

Publications

Mode of pathogenicity
Other

Created: 13 Dec 2021, 2:14 a.m.
Last Modified: 13 Dec 2021, 2:14 a.m.
Panel version: 0.1240

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Acromesomelic dysplasia 1, Maroteaux type (MIM#602875)
  • Epiphyseal chondrodysplasia, Miura type (MIM#615923)
  • Short stature with nonspecific skeletal abnormalities (MIM#616255)
OMIM
108961
Clinvar variants
Variants in NPR2
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

13 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: npr2 has been classified as Green List (High Evidence).

13 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NPR2 were changed from ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE to Acromesomelic dysplasia 1, Maroteaux type (MIM#602875); Epiphyseal chondrodysplasia, Miura type (MIM#615923); Short stature with nonspecific skeletal abnormalities (MIM#616255)

13 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NPR2 were set to

13 Dec 2021, Gel status: 3

Set mode of pathogenicity

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of pathogenicity for gene: NPR2 was changed from to Other

13 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NPR2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

13 Dec 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NPR2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NPR2 was added gene: NPR2 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPR2 were set to ACROMESOMELIC DYSPLASIA MAROTEAUX TYPE