NPR2

natriuretic peptide receptor 2
OMIM: 108961, Gene2Phenotype

6 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 6 panels
Amber NPR2 in Skeletal Dysplasia_Fetal Level 2: Skeletal disorders Version 0.223	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert list Phenotypes Acromesomelic dysplasia 1, Maroteaux type - MIM#602875
Green NPR2 in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Acromesomelic dysplasia, Maroteaux type MIM# 602875 Epiphyseal chondrodysplasia, Miura type, MIM# 615923 Short stature with nonspecific skeletal abnormalities, MIM# 616255
Green NPR2 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Expert Review Green NHS GMS Expert list Emory Genetics Laboratory Victorian Clinical Genetics Services Phenotypes Short stature with nonspecific skeletal abnormalities 616255 Epiphyseal chondrodysplasia, Miura type 615923 Acromesomelic dysplasia, Maroteaux type 602875
Green NPR2 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Acromesomelic dysplasia, Maroteaux type, 602875 (3)
Green NPR2 in Fetal anomalies Version 1.255	review	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)
Green NPR2 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Acromesomelic dysplasia, Maroteaux type, 602875 (3)