CATSPER2:Ensemblv90

cation channel sperm associated 2
OMIM: 607249, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber CATSPER2 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • spermatogenic failure
  • non-syndromic hearing loss
Tags
  • SV/CNV

Red CATSPER2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.304

1 review Unknown
Sources
  • Expert Review Red
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services

Red CATSPER2 in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Expert Review Red