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  3. NPR2
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Skeletal Dysplasia_Fetal

Gene: NPR2

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Small-normal birth length, unlikely to be detectable antenatally.
Created: 6 Oct 2022, 12:22 a.m. | Last Modified: 6 Oct 2022, 12:22 a.m.
Panel Version: 0.133

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acromesomelic dysplasia 1, Maroteaux type - MIM#602875

Created: 6 Oct 2022, 12:22 a.m.
Last Modified: 6 Oct 2022, 12:22 a.m.
Panel version: 0.133

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic LoF variants associated with AMDM, a disorder characterised by severe dwarfism with disproportionate shortening of the middle and distal segments of the limbs. Shortening of the limbs may be detected antenatally.
Sources: Expert list, Literature
Created: 30 Sep 2022, 12:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Acromesomelic dysplasia 1, Maroteaux type - MIM#602875

Publications

Created: 30 Sep 2022, 12:29 a.m.

Panel version: 0.121

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Expert list
Phenotypes
  • Acromesomelic dysplasia 1, Maroteaux type - MIM#602875
OMIM
108961
Clinvar variants
Variants in NPR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: npr2 has been classified as Amber List (Moderate Evidence).

6 Oct 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: npr2 has been classified as Amber List (Moderate Evidence).

6 Oct 2022, 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).

30 Sep 2022, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: NPR2 was added gene: NPR2 was added to Skeletal Dysplasia_Fetal. Sources: Expert list,Literature Mode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NPR2 were set to 31555216; 16384845; 15146390; 22870295; 24057292; 24259409; 16384845; 24471569 Phenotypes for gene: NPR2 were set to Acromesomelic dysplasia 1, Maroteaux type - MIM#602875 Review for gene: NPR2 was set to GREEN