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  2. Deafness and congenital structural abnormalities
  3. HMX1
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Deafness and congenital structural abnormalities

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

5 reviews

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and "probable" association in G2P / DD. Only two homozygous variants reported in two families, segregation demonstrated. Functional studies support involvement in oculoauricular syndrome
Created: 14 Sep 2016, 11:41 a.m.
Created: 14 Sep 2016, 11:41 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.60

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Oculoauricular syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 13 Sep 2016, 9:31 a.m.

Panel version: Imported from "Familial hemifacial microsomia" panel version 0.33

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Green on the Bilateral Microtia Version 1.10 panel.
Created: 12 Sep 2016, 2:23 p.m.
Created: 12 Sep 2016, 2:23 p.m.

Panel version: Imported from "Ear malformations with hearing impairment" panel version 0.41

Jun Shen (Harvard Medical School)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#612109:Oculoauricular syndrome [Lobular aplasia; Narrow intertragic notch; Abnormal bridge connecting the crus of the helix and antihelix; Nystagmus; Microphthalmia; Microcornea; Cataract; Coloboma; Chorioretinal atrophic lacunae; Morning glory-like dysplastic macropapillae; Macular hypoplasia; Microphakia; Rod-cone dystrophy; Sclerocornea; Increased intraocular pressure]

Publications

Created: 9 Feb 2016, 5:15 p.m.

Panel version: Imported from "Bilateral microtia" panel version 1.0

Maria Bitner-Glindzicz (UCL)

Green List (high evidence)

MIM 612109
Created: 3 Feb 2016, 9:01 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CAuses OCULOAURICULAR syndrome; syndromic features

Publications

Created: 3 Feb 2016, 9:01 p.m.

Panel version: Imported from "Bilateral microtia" panel version 0.0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert list
Phenotypes
  • Bilateral Microtia
  • 612109
  • Oculoauricular syndrome
  • syndromic features
  • Oculoauricular syndrome 612109
OMIM
142992
Clinvar variants
Variants in HMX1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

26 Oct 2016, Gel status: 4

panel promoted to version 1

Ellen McDonagh (Genomics England Curator)

26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.

14 Oct 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

14 Oct 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for HMX1 were set to 18423520; 25574057;25574057; 19379485;10779178;1360670;9337406

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

HMX1 was added to Deafness and congenital structural abnormalitiespanel. Source: Radboud University Medical Center, Nijmegen HMX1 was added to Deafness and congenital structural abnormalitiespanel. Source: UKGTN

5 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

HMX1 was created by sleigh

5 Oct 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

HMX1 was added to Deafness and congenital structural abnormalitiespanel. Sources: Expert list,Expert Review Green