Deafness and congenital structural abnormalities

Gene: NKX3-2

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

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.

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

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.

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

• PMID:11702952
• 14973294
• 16407370
• 20004766
• 9256352
• 9344671
• 9426254

Red List (low evidence)