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  2. Anophthalmia_Microphthalmia_Coloboma
  3. HMX1
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Anophthalmia_Microphthalmia_Coloboma

Gene: HMX1

Green List (high evidence)
HMX1 (H6 family homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000215612
EnsemblGeneIds (GRCh37): ENSG00000215612
OMIM: 142992, Gene2Phenotype
HMX1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Microphthalmia and ocular coloboma are part of the phenotype.
Sources: Expert list
Created: 24 Dec 2019, 12:02 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Oculoauricular syndrome, MIM#612109

Created: 24 Dec 2019, 12:02 a.m.

Panel version: 0.16

Details

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

History Filter Activity

24 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hmx1 has been classified as Green List (High Evidence).

24 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hmx1 has been classified as Green List (High Evidence).

24 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HMX1 was added gene: HMX1 was added to Anophthalmia, microphthalmia, coloboma_VCGS. Sources: Expert list Mode of inheritance for gene: HMX1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HMX1 were set to Oculoauricular syndrome, MIM#612109 Review for gene: HMX1 was set to GREEN