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Mendeliome

Gene: CNGA2

Red List (low evidence)

CNGA2 (cyclic nucleotide gated channel alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000183862
EnsemblGeneIds (GRCh37): ENSG00000183862
OMIM: 300338, Gene2Phenotype
CNGA2 is in 1 panel

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single multiplex family with high-impact variant segregating with anosmia.
Sources: Literature
Created: 25 Oct 2020, 4 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Congenital anosmia

Publications

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital anosmia
OMIM
300338
Clinvar variants
Variants in CNGA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cnga2 has been classified as Red List (Low Evidence).

25 Oct 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: CNGA2 was added gene: CNGA2 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: CNGA2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CNGA2 were set to 28572688 Phenotypes for gene: CNGA2 were set to Congenital anosmia Review for gene: CNGA2 was set to RED