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Mackenzie's Mission_Reproductive Carrier Screening

Gene: NKX3-2

Green List (high evidence)

NKX3-2 (NK3 homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000109705
EnsemblGeneIds (GRCh37): ENSG00000109705
OMIM: 602183, Gene2Phenotype
NKX3-2 is in 8 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive
OMIM
602183
Clinvar variants
Variants in NKX3-2
Penetrance
None
Panels with this gene

History Filter Activity

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NKX3-2 was added gene: NKX3-2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive