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Mendeliome

Gene: CHRNA5

Red List (low evidence)

CHRNA5 (cholinergic receptor nicotinic alpha 5 subunit)
EnsemblGeneIds (GRCh38): ENSG00000169684
EnsemblGeneIds (GRCh37): ENSG00000169684
OMIM: 118505, Gene2Phenotype
CHRNA5 is in 1 panel

1 review

Paul De Fazio (Victorian Clinical Genetics Services)

Red List (low evidence)

GWAS tie this locus to nicotine dependence and lung cancer susceptibility. Insufficient evidence that variants in this gene cause disease.
Created: 18 Oct 2021, 11:37 p.m. | Last Modified: 18 Oct 2021, 11:37 p.m.
Panel Version: 0.9406

Mode of inheritance
Unknown

Phenotypes
Lung cancer susceptibility 2 (MIM#612052); Nicotine dependence, susceptibility to (MIM#612052)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Lung cancer susceptibility 2 (MIM#612052)
  • Nicotine dependence, susceptibility to (MIM#612052)
OMIM
118505
Clinvar variants
Variants in CHRNA5
Penetrance
None
Panels with this gene

History Filter Activity

19 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrna5 has been classified as Red List (Low Evidence).

19 Oct 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHRNA5 were changed from to Lung cancer susceptibility 2 (MIM#612052); Nicotine dependence, susceptibility to (MIM#612052)

19 Oct 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: chrna5 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: CHRNA5 was added gene: CHRNA5 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CHRNA5 was set to Unknown