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Prepair 1000+

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

Ee Ming Wong (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic NPR2 variants cause acromesomelic dysplasia, type Maroteaux.
Disorder is characterised by severe dwarfism with shortening of the middle and distal segments of the limbs (disproportionate) with skeletal growth falling off sharply after birth.
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.

Over 15 unrelated families; Biallelic (missense, nonsense, frameshift, splice) NPR2 variants; loss of function; multiple mouse models.
Created: 6 Jan 2025, 6:26 a.m. | Last Modified: 6 Jan 2025, 6:26 a.m.
Panel Version: 1.992

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acromesomelic dysplasia, Maroteaux type (MIM#602875)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Acromesomelic dysplasia, Maroteaux type, 602875 (3)
OMIM
108961
Clinvar variants
Variants in NPR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jan 2025, 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).

17 Jan 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NPR2 were set to

1 Jun 2022, 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 Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NPR2 were set to Acromesomelic dysplasia, Maroteaux type, 602875 (3)