Deafness and congenital structural abnormalities
Gene: HMX1Comment when marking as ready: Associated with phenotype in OMIM and "probable" association in G2P / DD. Only two homozygous variants reported in two families, segregation demonstrated. Functional studies support involvement in oculoauricular syndromeCreated: 14 Sep 2016, 11:41 a.m.
Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.Created: 12 Sep 2016, 2:23 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
#612109:Oculoauricular syndrome [Lobular aplasia; Narrow intertragic notch; Abnormal bridge connecting the crus of the helix and antihelix; Nystagmus; Microphthalmia; Microcornea; Cataract; Coloboma; Chorioretinal atrophic lacunae; Morning glory-like dysplastic macropapillae; Macular hypoplasia; Microphakia; Rod-cone dystrophy; Sclerocornea; Increased intraocular pressure]
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.
This gene has been classified as Green List (High Evidence).
Publications for HMX1 were set to 18423520; 25574057;25574057; 19379485;10779178;1360670;9337406
HMX1 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen HMX1 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN
HMX1 was created by sleigh
HMX1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green