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Hearing loss

Gene: ADCY1

Red List (low evidence)

ADCY1 (adenylate cyclase 1)
EnsemblGeneIds (GRCh38): ENSG00000164742
EnsemblGeneIds (GRCh37): ENSG00000164742
OMIM: 103072, Gene2Phenotype
ADCY1 is in 2 panels

1 review

Jun Shen (Harvard Medical School)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
#610154:?Deafness, autosomal recessive 44[Deafness, prelingual, profound (affects all frequencies)]

Publications

Details

Sources
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Deafness, autosomal recessive 44, 610154
OMIM
103072
Clinvar variants
Variants in ADCY1
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ADCY1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ADCY1 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Radboud University Medical Center, Nijmegen,Expert