CAKUT
Gene: CHRNA3Comment 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
Five affected individuals from three unrelated families.
Sources: Expert listCreated: 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
Gene: chrna3 has been classified as Green List (High Evidence).
Gene: chrna3 has been removed from the panel.
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