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Mendeliome

Gene: ADIPOQ

Red List (low evidence)

ADIPOQ (adiponectin, C1Q and collagen domain containing)
EnsemblGeneIds (GRCh38): ENSG00000181092
EnsemblGeneIds (GRCh37): ENSG00000181092
OMIM: 605441, Gene2Phenotype
ADIPOQ is in 1 panel

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: No evidence for association with Mendelian disease.
Created: 11 May 2021, 1:07 a.m. | Last Modified: 11 May 2021, 1:07 a.m.
Panel Version: 0.7578

Chern Lim (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 10918532 cited in OMIM: Heterozygous Arg112Cys found in a non-obese subject with decreased plasma adiponectin level. (R112C has 3 heterozygotes in gnomADv2.1.1).

Single gene-disease association not well established: several studies published about polymorphisms in ADIPOQ gene - PMID: 32685557, PMID: 33075772, PMID: 30574262.
Created: 11 May 2021, 1:04 a.m. | Last Modified: 11 May 2021, 1:04 a.m.
Panel Version: 0.7572

Phenotypes
Adiponectin deficiency MIM#612556

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Adiponectin deficiency MIM#612556
OMIM
605441
Clinvar variants
Variants in ADIPOQ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 May 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

11 May 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ADIPOQ were changed from to Adiponectin deficiency MIM#612556

11 May 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ADIPOQ were set to

11 May 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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