NKX3-2

NK3 homeobox 2
OMIM: 602183, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green NKX3-2 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
Phenotypes
  • Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330)

Green NKX3-2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondylo-megaepiphyseal-metaphyseal dysplasia - MIM#613330

Green NKX3-2 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 0.285

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • Spondylo-megaepiphyseal-metaphyseal dysplasia 613330

Green NKX3-2 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
  • Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive

Red NKX3-2 in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Spondylo-megaepiphyseal-metaphyseal dysplasia

Green NKX3-2 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330)

Green NKX3-2 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive

Red NKX3-2 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Spondylo-megaepiphyseal-metaphyseal dysplasia