Bilateral congenital or childhood onset cataracts
Gene: HMX1Comment on list classification: 2 families with oculauricular syndrome which includes cataracts, plus a mouse knock-down with a similar eye phenotype.Created: 7 Jun 2016, 1:06 p.m.
Reported in 2 separate families with oculoauricular syndrome (with cataracts). No animal model.Created: 25 May 2016, 8:10 a.m.
Publications
Variants in this GENE are reported as part of current diagnostic practice
Is on the Manchester congenital cataracts gene panel. Is a probable DD gene for Oculoauricular syndrome. Two families reported in OMIM.Created: 29 Apr 2016, 12:07 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Oculoauricular syndrome
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Phenotypes for HMX1 were set to Oculoauricular syndrome
Publications for HMX1 were set to Gillespie et al (2015) Invest. Ophthal. Vis. Sci. 56: 883-891; Schorderet et al (2008) Am. J. Hum. Genet. 82: 1178-1184
Mode of inheritance for HMX1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
HMX1 was added to Cataractspanel. Sources: UKGTN