Bilateral microtia
Gene: HMX1EnsemblGeneIds (GRCh38): ENSG00000215612
EnsemblGeneIds (GRCh37): ENSG00000215612
OMIM: 142992, Gene2Phenotype
HMX1 is in 8 panels
2 reviews
Jun Shen (Harvard Medical School)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Bilateral Microtia
- 612109
- OMIM
- 142992
- Clinvar variants
- Variants in HMX1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Richard Scott (Genomics England Curator)Publications for HMX1 were set to 18423520; 25574057
Set Mode of Inheritance
Richard Scott (Genomics England Curator)Mode of inheritance for HMX1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Richard Scott (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Richard Scott (Genomics England Curator)Phenotypes for HMX1 were set to Bilateral Microtia; 612109
Added New Source
Ellen McDonagh (Genomics England Curator)HMX1 was added to Bilateral Microtiapanel. Sources: Expert list