ClinGen Gene Validity Curations

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

Ellen McDonagh (Genomics England Curator)

This gene and information sourced from the ClinGen Gene Validity Curations. For the full report and publications, see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity.
Created: 23 Jun 2017, 11:51 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • ClinGen
Phenotypes
  • autosomal recessive nonsyndromic deafness 44
OMIM
103072
Clinvar variants
Variants in ADCY1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

23 Jun 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ADCY1 were set to 24482543

22 Jun 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ADCY1 was created by ellenmcdonagh

22 Jun 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ADCY1 was added to ClinGen Gene Validity Curationspanel. Sources: ClinGen,Expert Review Red