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Hearing loss

Gene: SOX9

Red List (low evidence)

SOX9 (SRY-box 9)
EnsemblGeneIds (GRCh38): ENSG00000125398
EnsemblGeneIds (GRCh37): ENSG00000125398
OMIM: 608160, Gene2Phenotype
SOX9 is in 11 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
#114290:Campomelic dysplasia with autosomal sex reversal[Short limb dwarfism, prenatal onsetBirth length 35-49 cm; Failure to thrive in survivors; Large anterior fontanelleMacrocephaly; High foreheadFlat, small faceMicrognathia; Low-set earsHearing loss; HypertelorismShort palpebral fissures; Depressed nasal root; Cleft palate; Congenital heart defects; Tracheobronchomalacia; Respiratory distressApnea; Small thoracic cage; Hypoplastic scapulaeSlender ribsAbsent sternal mineralization11 pairs of ribs; Sex reversal in some katyotypic males (ovarian, mullerian duct, and vaginal development in XY individuals); Hydronephrosis; Enlarged and elongated skull; Hypoplastic, poorly ossified cervical vertebraeKyphoscoliosisNon mineralized thoracic pedicles; Small iliac wingsRelatively wide pelvic outletDislocated hips; Short phalanges both hands and feetTalipes equinovarusAnterior bowing of tibiaShort fibulaMildly bowed femurAbsent ossification of proximal tibial, and distal femoral epiphysis; Cutaneous dimpling over bowed tibia; HypotoniaAbsent olfactory tract or bulbsHydrocephalus]

Publications

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

SOX9 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert