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Hearing loss

Gene: CATSPER2

Red List (low evidence)

CATSPER2 (cation channel sperm associated 2)
EnsemblGeneIds (GRCh38): ENSG00000166762
EnsemblGeneIds (GRCh37): ENSG00000166762
OMIM: 607249, Gene2Phenotype
CATSPER2 is in 1 panel

2 reviews

Maria Bitner-Glindzicz (UCL)

Red List (low evidence)

Jun Shen (Harvard Medical School)

Red List (low evidence)

Involved in a contiguous deletion syndrome, in which the adjacent STRC gene is the cause for hearing loss. Homozygous loss of CATSPER2 leads to male infertility.
Created: 19 Feb 2016, 6:25 a.m.
CATSPER2 is not associated with a phenotype entry in OMIM.
Created: 7 Feb 2016, 3:35 p.m.

Publications

Details

Sources
  • Expert
OMIM
607249
Clinvar variants
Variants in CATSPER2
Penetrance
Complete
Panels with this gene

History Filter Activity

24 Jun 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

CATSPER2 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Expert