Bilateral microtia
Gene: NKX3-2

NKX3-2 (NK3 homeobox 2)
EnsemblGeneIds (GRCh38): ENSG00000109705
EnsemblGeneIds (GRCh37): ENSG00000109705
OMIM: 602183, Gene2Phenotype
NKX3-2 is in 6 panels

2 reviews

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#613330:Spondylo-megaepiphyseal-metaphyseal dysplasia [Short stature; Macrocephaly; Hypertelorism; Short neck; Limited mobility; Short ribs; Ribs are widely separated from vertebral column; Protuberant abdomen (secondary to skeletal dysplasia); Absent vertebral body ossification; Delayed pubic bone ossification; Widened triradiate cartilage; Coxa vara; Large capital femoral epiphyses; Hypoplastic ilia; Large epiphyses (megaepiphyses); Irregular metaphyses; Pseudoepiphyses; Contractures; Large epiphyses; Genu varum; Genu valgum; Delayed carpal bone ossification; Pseudoepiphyses in metacarpal bones; Pseudoepiphyses]

Publications

Created: 9 Feb 2016, 5:16 p.m.

Panel version: 1.0

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Created: 3 Feb 2016, 9:12 p.m.

Panel version: 0.0

Details

Sources

Expert Review Red
Expert list

Phenotypes

Bilateral Microtia

OMIM

602183

Clinvar variants

Variants in NKX3-2

Penetrance

Complete

Panels with this gene

History Filter Activity

4 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NKX3-2 was added to Bilateral Microtiapanel. Sources: Expert list

Bilateral microtia Gene: NKX3-2