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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
  3. CHRNA3
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Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Five affected individuals from three unrelated families.
Sources: Literature
Created: 2 Jan 2020, 11:11 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CAKUT; dysautonomia

Publications

Created: 2 Jan 2020, 11:11 a.m.

Panel version: 0.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800
OMIM
118503
Clinvar variants
Variants in CHRNA3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CHRNA3 were changed from CAKUT; dysautonomia to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800

2 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Jan 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CHRNA3 was added gene: CHRNA3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic_VCGS. Sources: Literature 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