Cataracts

Gene: HMX1

Green List (high evidence)

HMX1 (H6 family homeobox 1)
EnsemblGeneIds (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)

I don't know

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)

I don't know

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

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jun 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

7 Jun 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

2 Jun 2016, Gel status: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for HMX1 were set to Oculoauricular syndrome

2 Jun 2016, Gel status: 2

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

2 Jun 2016, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for HMX1 was changed to BIALLELIC, autosomal or pseudoautosomal

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

HMX1 was added to Cataractspanel. Sources: UKGTN