Ocular coloboma
Gene: HMX1EnsemblGeneIds (GRCh38): ENSG00000215612
EnsemblGeneIds (GRCh37): ENSG00000215612
OMIM: 142992, Gene2Phenotype
HMX1 is in 8 panels
3 reviews
Ivone Leong (Genomics England Curator)
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.
Ellen McDonagh (Genomics England Curator)
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.
Phenotypes
Oculoauricular syndrome 612109
Publications
Alice Gardham (Genomics England)
Mutations only identified in two families. Recognised on G2P as causing colobomaCreated: 17 Nov 2016, 1:46 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Oculoauricular syndrome 612109
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Literature
- UKGTN
- Phenotypes
-
- Oculoauricular syndrome 612109
- OMIM
- 142992
- Clinvar variants
- Variants in HMX1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: hmx1 has been classified as Green List (High Evidence).
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: HMX1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: HMX1 were set to 18423520; 25574057; 21417677
Set publications
Ellen McDonagh (Genomics England Curator)Publications for HMX1 were set to 18423520; 25574057;21417677
panel promoted to version 1
Alice Gardham (Genomics England)Promoted to version 1 on 6th February 2016 by Alice Gardham
Set publications
Ellen McDonagh (Genomics England Curator)Publications for HMX1 were set to 18423520; 25574057
Added New Source
Alice Gardham (Genomics England)HMX1 was added to Ocular colobomapanel. Sources: Literature,Radboud University Medical Center, Nijmegen,UKGTN
Created
Alice Gardham (Genomics England)HMX1 was created by agardham