Paediatric disorders - additional genes
Gene: CHRNA3

CHRNA3 (cholinergic receptor nicotinic alpha 3 subunit)
EnsemblGeneIds (GRCh38): ENSG00000080644
EnsemblGeneIds (GRCh37): ENSG00000080644
OMIM: 118503, Gene2Phenotype
CHRNA3 is in 4 panels

3 reviews

Sarah Leigh (Genomics England Curator)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 10 Mar 2022, 3:53 p.m. | Last Modified: 10 Mar 2022, 3:53 p.m.

Panel Version: 1.96

Created: 10 Mar 2022, 3:53 p.m.
Last Modified: 10 Mar 2022, 3:53 p.m.
Panel version: 1.96

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update.
Created: 19 Oct 2020, 12:30 p.m. | Last Modified: 19 Oct 2020, 12:30 p.m.

Panel Version: 1.57

Created: 19 Oct 2020, 12:30 p.m.
Last Modified: 19 Oct 2020, 12:30 p.m.
Panel version: 1.57

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated gene from Amber to Green, awaiting GLH review. CAKUT is secondary to bladder obstruction, and therefore additional congenital defects may present (PMID:31708116).
Created: 14 May 2020, 2:33 p.m. | Last Modified: 14 May 2020, 2:33 p.m.

Panel Version: 1.33

PMID:31708116 (Mann et al., 2019) identify 3 different biallelic variants in CHRNA3 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: 12 May 2020, 8:19 p.m. | Last Modified: 14 May 2020, 1:55 p.m.

Panel Version: 1.32

Added 'for-review' tag: Requires GLH review as to whether phenotype is sufficient for inclusion on Paediatric disorders panel.
Created: 12 May 2020, 4:16 p.m. | Last Modified: 12 May 2020, 8:19 p.m.

Panel Version: 1.23

Added to Paediatric disorders - additional genes panel, based on Green rating on CAKUT panel V1.106.
Created: 12 May 2020, 3:57 p.m. | Last Modified: 12 May 2020, 3:57 p.m.

Panel Version: 1.4

Created: 12 May 2020, 3:57 p.m.
Last Modified: 14 May 2020, 1:55 p.m.
Panel version: 1.22

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Other

Phenotypes

CAKUT
dysautonomia
Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800

OMIM

118503

Clinvar variants

Variants in CHRNA3

Penetrance

None

Publications

31708116

Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: CHRNA3.

10 Mar 2022, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to CHRNA3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

19 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: chrna3 has been classified as Amber List (Moderate Evidence).

14 May 2020, Gel status: 3