Paediatric disorders - additional genes
Gene: CHRNA3The 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
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
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
Tag for-review was removed from gene: CHRNA3.
Source Expert Review Green was added to CHRNA3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: chrna3 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: CHRNA3 were changed from CAKUT; dysautonomia; functional lower urinary tract obstruction and secondary CAKUT to CAKUT; dysautonomia; Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800
Gene: chrna3 has been classified as Green List (High Evidence).
Phenotypes for gene: CHRNA3 were changed from CAKUT; dysautonomia to CAKUT; dysautonomia; functional lower urinary tract obstruction and secondary CAKUT
Gene: chrna3 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: CHRNA3.
gene: CHRNA3 was added gene: CHRNA3 was added to Paediatric disorders - additional genes. Sources: Other,Expert Review Green 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