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Mendeliome

Gene: ADRB2

Red List (low evidence)

ADRB2 (adrenoceptor beta 2)
EnsemblGeneIds (GRCh38): ENSG00000169252
EnsemblGeneIds (GRCh37): ENSG00000169252
OMIM: 109690, Gene2Phenotype
ADRB2 is in 1 panel

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 15724149 - K/O mice demonstrated increased bone resorption. No other obvious phenotype.

OMIM - p.Gly16Arg is associated to nocturnal asthma, but is a common poly (gnomAD)
Created: 29 Mar 2022, 10:18 p.m. | Last Modified: 29 Mar 2022, 10:18 p.m.
Panel Version: 0.12276

Mode of inheritance
Unknown

Phenotypes
Beta-2-adrenoreceptor agonist, reduced response to; {Asthma, nocturnal, susceptibility to} MIM#600807; {Obesity, susceptibility to} MIM#601665

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Beta-2-adrenoreceptor agonist, reduced response to
  • {Asthma, nocturnal, susceptibility to} MIM#600807
  • {Obesity, susceptibility to} MIM#601665
OMIM
109690
Clinvar variants
Variants in ADRB2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Mar 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ADRB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

29 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: adrb2 has been classified as Red List (Low Evidence).

29 Mar 2022, Gel status: 1

Set Phenotypes

Elena Savva (Victorian Clinical Genetics Services)

Phenotypes for gene: ADRB2 were changed from to Beta-2-adrenoreceptor agonist, reduced response to; {Asthma, nocturnal, susceptibility to} MIM#600807; {Obesity, susceptibility to} MIM#601665

29 Mar 2022, Gel status: 1

Set publications

Elena Savva (Victorian Clinical Genetics Services)

Publications for gene: ADRB2 were set to

29 Mar 2022, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: adrb2 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: ADRB2 was added gene: ADRB2 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ADRB2 was set to Unknown