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  3. ADCY1
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Deafness_IsolatedAndComplex

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported; rated as Limited evidence by ClinGen.
Created: 30 Dec 2019, 11:36 p.m. | Last Modified: 30 Dec 2019, 11:36 p.m.
Panel Version: 0.16

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Deafness, autosomal recessive 44, MIM# 610154

Publications

Created: 30 Dec 2019, 11:36 p.m.
Last Modified: 30 Dec 2019, 11:36 p.m.
Panel version: 0.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 44, MIM# 610154
OMIM
103072
Clinvar variants
Variants in ADCY1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adcy1 has been classified as Red List (Low Evidence).

30 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADCY1 were changed from Deafness, autosomal recessive 44, MIM# 610154 to Deafness, autosomal recessive 44, MIM# 610154

30 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADCY1 were changed from to Deafness, autosomal recessive 44, MIM# 610154

30 Dec 2019, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADCY1 were set to

30 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ADCY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

30 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adcy1 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADCY1 was added gene: ADCY1 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: ADCY1 was set to Unknown