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  2. Deafness_IsolatedAndComplex
  3. CATSPER2
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Deafness_IsolatedAndComplex

Gene: CATSPER2

Red List (low evidence)
CATSPER2 (cation channel sperm associated 2)
EnsemblGeneIds (GRCh38): ENSG00000166762
EnsemblGeneIds (GRCh37): ENSG00000166762
OMIM: 607249, Gene2Phenotype
CATSPER2 is in 2 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Involved in a contiguous deletion syndrome, in which STRC is the likely cause of deafness.
Created: 2 Jan 2020, 3:35 a.m. | Last Modified: 2 Jan 2020, 3:35 a.m.
Panel Version: 0.184
Created: 2 Jan 2020, 3:35 a.m.
Last Modified: 2 Jan 2020, 3:35 a.m.
Panel version: 0.184

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
OMIM
607249
Clinvar variants
Variants in CATSPER2
Penetrance
None
Panels with this gene

History Filter Activity

2 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: catsper2 has been classified as Red List (Low Evidence).

2 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: catsper2 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CATSPER2 was added gene: CATSPER2 was added to Deafness_MelbourneGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Deafness Flagship Mode of inheritance for gene: CATSPER2 was set to Unknown