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Mendeliome

Gene: ADCY3

Amber List (moderate evidence)

ADCY3 (adenylate cyclase 3)
EnsemblGeneIds (GRCh38): ENSG00000138031
EnsemblGeneIds (GRCh37): ENSG00000138031
OMIM: 600291, Gene2Phenotype
ADCY3 is in 2 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

PMID: 11055432 - null mouse model shows higher mortality rate and doesnt appear to be of increased weight/size compared to WT. Authors note the mutant mice were smaller than WT as newborns.

PMID: 29311636 - founder canonical splice variant (c.2433-1G>A) in greenlandic populations demonstrate higher risk of obesity, type 2 diabetes in hom patients

PMID: 29311637 - 4 unrelated probands with severe early onset obesity, had homozygous canonical splice, 2 fs, missense, inframe deletion
Created: 28 Mar 2022, 5:10 a.m. | Last Modified: 28 Mar 2022, 5:10 a.m.
Panel Version: 0.12150

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
{Obesity, susceptibility to, BMIQ19} MIM#617885

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • {Obesity, susceptibility to, BMIQ19} MIM#617885
OMIM
600291
Clinvar variants
Variants in ADCY3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adcy3 has been classified as Amber List (Moderate Evidence).

28 Mar 2022, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADCY3 were changed from to {Obesity, susceptibility to, BMIQ19} MIM#617885

28 Mar 2022, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADCY3 were set to

28 Mar 2022, Gel status: 2

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ADCY3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

28 Mar 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: adcy3 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ADCY3 was added gene: ADCY3 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADCY3 was set to Unknown