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Hearing loss

Gene: SOBP

Red List (low evidence)

SOBP (sine oculis binding protein homolog)
EnsemblGeneIds (GRCh38): ENSG00000112320
EnsemblGeneIds (GRCh37): ENSG00000112320
OMIM: 613667, Gene2Phenotype
SOBP is in 3 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#613671:Mental retardation, anterior maxillary protrusion, and strabismus[Anterior maxillary protrusion; Mild cochlear hearing loss (1 patient); StrabismusEsotropia (1 patient)Amblyopia (1 patient)Poor vision (1 patient)Hypermetropia (1 patient); Vertical maxillary excess; Open biteProminent, crowded teeth; Hyperlaxity; Mental retardation, severeDelayed psychomotor developmentDelayed speech developmentPoor speechTemporal lobe epilepsy (1 patient); Short attention spanPsychosis (1 patient)]

Publications

Details

Sources
  • Expert
OMIM
613667
Clinvar variants
Variants in SOBP
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

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