Corneal abnormalities
Gene: HMX1

HMX1 (H6 family homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000215612
EnsemblGeneIds (GRCh37): ENSG00000215612
OMIM: 142992, Gene2Phenotype
HMX1 is in 8 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Discussed internally with Chris Campbell and Manchester GDL and decided to promote to green.
Created: 22 Feb 2017, 9:52 a.m.

Comment on list classification: Reported in two families.
Created: 20 Feb 2017, 5:50 p.m.

Created: 20 Feb 2017, 5:50 p.m.

Panel version: 0.83

Chris Campbell (NHS)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculoauricular syndrome

Publications

25574057

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

Created: 7 Feb 2017, 5:35 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
GDL Corneal Abnormalities panel

Phenotypes

Oculoauricular syndrome 612109

OMIM

142992

Clinvar variants

Variants in HMX1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

9 Mar 2017, Gel status: 4

panel promoted to version 1

Chris Campbell (GEL)

09/03/2017 Revised and approved to Version 1.0 after expert and internal review.

22 Feb 2017, Gel status: 4