Skeletal Dysplasia_Fetal
Gene: NKX3-2

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

2 reviews

Krithika Murali (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: 23 Mar 2022, 2:15 a.m. | Last Modified: 23 Mar 2022, 2:15 a.m.

Panel Version: 0.59

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 23 Mar 2022, 2:15 a.m.
Last Modified: 23 Mar 2022, 2:15 a.m.
Panel version: 0.59

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

Created: 12 Dec 2021, 11:02 p.m.
Last Modified: 12 Dec 2021, 11:02 p.m.
Panel version: Imported from Fetal anomalies panel version 0.1240

Details

Mode of Inheritance

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)

OMIM

602183

Clinvar variants

Variants in NKX3-2

Penetrance

None

Publications

Panels with this gene