CAKUT

Gene: CHRNA3

Green List (high evidence)

CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit)
EnsemblGeneIds (GRCh38): ENSG00000080644
EnsemblGeneIds (GRCh37): ENSG00000080644
OMIM: 118503, Gene2Phenotype
CHRNA3 is in 3 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Gene was added to panel and rated Green by Zornitza Stark. Sufficient cases (3 unrelated families) from one paper, plus functional studies to support causation and therefore increased rating to Green.
Created: 30 Apr 2020, 1:35 p.m. | Last Modified: 30 Apr 2020, 1:35 p.m.
Panel Version: 1.66
PMID:31708116 (Mann et al., 2019) identify 3 different biallelic variants in CHRNA2 in 5 individuals from 3 unrelated families with functional lower urinary tract obstruction and secondary CAKUT. All 3 variants impair acetylcholine signaling. The truncating variants p.Thr337Asnfs∗81 and p.Ser340∗ led to impaired plasma membrane localization of CHRNA3. The third variant is an essential splice site variant. None of the variants were present in gnomAD.
Created: 30 Apr 2020, 1:35 p.m. | Last Modified: 30 Apr 2020, 1:35 p.m.
Panel Version: 1.65

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Five affected individuals from three unrelated families.
Sources: Expert list
Created: 30 Jan 2020, 3:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CAKUT; dysautonomia

Publications

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • CAKUT
  • dysautonomia
OMIM
118503
Clinvar variants
Variants in CHRNA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Apr 2020, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: chrna3 has been classified as Green List (High Evidence).

30 Apr 2020, Gel status: 0

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: chrna3 has been removed from the panel.

30 Jan 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: CHRNA3 was added gene: CHRNA3 was added to CAKUT. Sources: Expert list Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHRNA3 were set to 31708116 Phenotypes for gene: CHRNA3 were set to CAKUT; dysautonomia Review for gene: CHRNA3 was set to GREEN gene: CHRNA3 was marked as current diagnostic