Deafness and congenital structural abnormalities

Gene: NKX3-2

Red List (low evidence)

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

6 reviews

Muriel Holder (Clinical Genetics, Guy's Hospital)

Red List (low evidence)

Different phenotype
Created: 17 Oct 2016, 12:41 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Mode of pathogenicity
Other

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Phenotype not relevant to this panel. Two red reviews on the Bilateral microtia panel
Created: 19 Sep 2016, 8:43 a.m.

Ana Beleza (Bristol Regional Genetics Service)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spondylo-megaepiphyseal-metaphyseal dysplasia

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Red gene on the Bilateral microtia (Version 1.10), Ear malformations with hearing impairment (Version 0.103) and Familial hemifacial microsomia (Version 0.148) gene panels which were combined to create this panel.
Created: 14 Oct 2016, 1:31 p.m.
Comment on list classification: Red on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:59 p.m.

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

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Bilateral Microtia
  • Spondylo-megaepiphyseal-metaphyseal dysplasia
OMIM
602183
Clinvar variants
Variants in NKX3-2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 1

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for NKX3-2 were set to 11702952; 14973294; 16407370; 20004766; 9256352; 9344671; 9426254

14 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

14 Oct 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

5 Oct 2016, Gel status: 1

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Model of inheritance for gene NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal

5 Oct 2016, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

NKX3-2 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

NKX3-2 was created by sleigh