Ocular colobomaGene: HMX1
Comment on list classification: Prmoted from amber to green. PMID: 29140751 describes a new unrelated case with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata. This makes it 3 unrelated cases of patients with variants in this gene. Therefore, promoted it to green rating.
Created: 12 Apr 2019, 1:23 p.m.
Comment on mode of inheritance: Changed from 'Both monoallelic and biallelic' to 'Biallelic' as all cases are biallelic.
Created: 12 Apr 2019, 1:18 p.m.
PMID: 21417677 describes a boy with a mutation in HMX1 with oculo-auricular syndrome (MIM: 612109 which does include Coloboma in the clinical synopsis), though the full text is not available to check the variant or segregation data. HMX1 is a green gene on the Posterior segment abnormalities gene panel version 1.22.
Created: 31 Jan 2017, 5:42 p.m.
Oculoauricular syndrome 612109
Gene: hmx1 has been classified as Green List (High Evidence).
Mode of inheritance for gene: HMX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HMX1 were set to 18423520; 25574057; 21417677
Publications for HMX1 were set to 18423520; 25574057;21417677
Promoted to version 1 on 6th February 2016 by Alice Gardham
Publications for HMX1 were set to 18423520; 25574057
HMX1 was added to Ocular colobomapanel. Sources: Literature,Radboud University Medical Center, Nijmegen,UKGTN
HMX1 was created by agardham