Bilateral congenital or childhood onset cataracts
Gene: HMX1EnsemblGeneIds (GRCh38): ENSG00000215612
EnsemblGeneIds (GRCh37): ENSG00000215612
OMIM: 142992, Gene2Phenotype
HMX1 is in 8 panels
3 reviews
Ellen Thomas (Genomics England Curator)
Comment 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.
Sarah Waller (Manchester Centre for Genomic Medicine)
Reported in 2 separate families with oculoauricular syndrome (with cataracts). No animal model.Created: 25 May 2016, 8:10 a.m.
Publications
- Gillespie et al (2015) Invest. Ophthal. Vis. Sci. 56: 883-891
- Schorderet et al (2008) Am. J. Hum. Genet. 82: 1178-1184
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Phenotypes
-
- Oculoauricular syndrome
- OMIM
- 142992
- Clinvar variants
- Variants in HMX1
- Penetrance
- Complete
- Publications
-
- Gillespie et al (2015) Invest. Ophthal. Vis. Sci. 56: 883-891
- Schorderet et al (2008) Am. J. Hum. Genet. 82: 1178-1184
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for HMX1 were set to Oculoauricular syndrome
Set publications
Ellen McDonagh (Genomics England Curator)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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for HMX1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
GEL ()HMX1 was added to Cataractspanel. Sources: UKGTN