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Hearing loss

Gene: PRRX1

Red List (low evidence)

PRRX1 (paired related homeobox 1)
EnsemblGeneIds (GRCh38): ENSG00000116132
EnsemblGeneIds (GRCh37): ENSG00000116132
OMIM: 167420, Gene2Phenotype
PRRX1 is in 3 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
#202650:Agnathia-otocephaly complex[Otocephaly; Mandibular hypoplasiaMandibular agenesisAgnathia; SynotiaEar anomaliesHearing loss, conductive; SynophthalmiaDownslanted palpebral fissures; Frontal proboscis; MicrostomiaMicroglossiaAglossiaCleft palateHypoplastic oropharynx; Respiratory distress; Hypoplastic epiglottisHypoplastic larynxTrachea-oropharynx connection agenesis; Blind-ended tracheaTracheomalacia; Situs inversus (variable); Holoprosencephaly (variable)Agenesis of the corpus callosum (variable)]

Publications

Details

Sources
  • Expert
OMIM
167420
Clinvar variants
Variants in PRRX1
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PRRX1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert