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Hearing loss

Gene: YAP1

Red List (low evidence)

YAP1 (Yes associated protein 1)
EnsemblGeneIds (GRCh38): ENSG00000137693
EnsemblGeneIds (GRCh37): ENSG00000137693
OMIM: 606608, Gene2Phenotype
YAP1 is in 7 panels

1 review

Jun Shen (Harvard Medical School)

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

Phenotypes
#120433:Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation[Hearing loss, sensorineural, mid-frequency (in some patients); Uveal colobomaMicrophthalmia (in some patients)Impairment of extraocular movement (in some patients)Cataract (in some patients)Ptosis (rare); Cleft lip (in some patients)Cleft palate (in some patients); Hematuria (in some patients); Mental retardation (in some patients)]

Publications

Details

Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Coloboma, ocular, 120433Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mentalretardation, 120433
OMIM
606608
Clinvar variants
Variants in YAP1
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

YAP1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen