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Fetal anomalies

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

1 review

Daniel Flanagan (Victorian Clinical Genetics Services)

Green List (high evidence)

4 families reported with biallelic PTC NKX3-2 variants, causing Spondylo-megaepiphyseal-metaphyseal dysplasia. Features include a disproportionate short stature with a short and stiff neck and trunk, macrocephaly.
Created: 12 Dec 2021, 11:02 p.m. | Last Modified: 12 Dec 2021, 11:02 p.m.
Panel Version: 0.1240

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330)
OMIM
602183
Clinvar variants
Variants in NKX3-2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Dec 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nkx3-2 has been classified as Green List (High Evidence).

13 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NKX3-2 were changed from SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA to Spondylo-megaepiphyseal-metaphyseal dysplasia (MIM#613330)

13 Dec 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NKX3-2 were set to

24 Oct 2021, 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 Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp 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