Deafness and congenital structural abnormalities
Gene: NKX3-2
Different phenotypeCreated: 17 Oct 2016, 12:41 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity
Other
Comment when marking as ready: Phenotype not relevant to this panel. Two red reviews on the Bilateral microtia panelCreated: 19 Sep 2016, 8:43 a.m.
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
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.
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
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.
Publications for NKX3-2 were set to 11702952; 14973294; 16407370; 20004766; 9256352; 9344671; 9426254
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal
NKX3-2 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Red
NKX3-2 was created by sleigh