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  3. HMX1
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Structural eye disease

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Schorderet homozyogus frameshift segregating in three members of consanguineous pedigree with microcornea, microphthalmia, ant. Segment dysgenesis and coloboma, Gillespie homozygous missense in two members of consanguienous pedigree with cataract, segregating in members for which samples were available, anterior segment dysgenesis and iris coloboma; Abdel-Salam one consanguineous case with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata and homozygous nonsense variant - parents are heterozygous. All published cases are bialleleic, change mode of inheritance
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Oculoauricular syndrome 612109

Publications

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: MOI corrected from Both monoallelic and biallelic to Biallelic based on reviewers comments and OMIM.
Created: 19 Nov 2019, 11:37 a.m. | Last Modified: 19 Nov 2019, 11:37 a.m.
Panel Version: 0.99
Promoted from amber to green as there is sufficient evidence.
Created: 24 Apr 2019, 2:37 p.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Schorderet homozyogus frameshift segregating in three members of consanguineous pedigree with microcornea, microphthalmia, ant. Segment dysgenesis and coloboma, Gillespie homozygous missense in two members of consanguienous pedigree with cataract, segregating in members for which samples were available, anterior segment dysgenesis and iris coloboma; Abdel-Salam one consanguineous case with microphthalmia, congenital cataract, microcornea, and iris and optic disc colobomata and homozygous nonsense variant - parents are heterozygous. All published cases are bialleleic, change mode of inheritance
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Oculoauricular syndrome 612109

Publications

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

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.71

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Oculoauricular syndrome 612109
OMIM
142992
Clinvar variants
Variants in HMX1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Nov 2019, Gel status: 3

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

17 Apr 2019, Gel status: 3

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to HMX1. Source Expert Review Green was added to HMX1. Mode of inheritance for gene HMX1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Oculoauricular syndrome 612109 for gene: HMX1 Publications for gene HMX1 were changed from 18423520; 21417677; 25574057 to 21417677; 29140751; 25574057; 18423520 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

12 Apr 2019, Gel status: 2

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

3 Jan 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: HMX1 was added gene: HMX1 was added to Structural eye disease. Sources: Expert Review Amber Mode of inheritance for gene: HMX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HMX1 were set to 18423520; 21417677; 25574057 Phenotypes for gene: HMX1 were set to Oculoauricular syndrome 612109