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Hearing loss

Gene: HOXB1

Red List (low evidence)

HOXB1 (homeobox B1)
EnsemblGeneIds (GRCh38): ENSG00000120094
EnsemblGeneIds (GRCh37): ENSG00000120094
OMIM: 142968, Gene2Phenotype
HOXB1 is in 3 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#614744:Facial paresis, hereditary congenital, 3[Facial paresis, congenital bilateralFacial muscle weakness of muscles innervated by CN VIIMidface retrusion (in some patients)Micrognathia (in some patients)Smooth philtrum (in some patients); Hearing loss, sensorineural, mild to moderateLow-set ears (in some patients)Posteriorly rotated ears (in some patients); Esotropia (in some patients)Esophoria (in some patients); Upturned nasal tip (in some patients); Facial paresis, congenital bilateralFacial muscle weakness of muscles innervated by CN VII]

Publications

Details

Sources
  • Expert
OMIM
142968
Clinvar variants
Variants in HOXB1
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

HOXB1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert