STRC:Ensemblv115

stereocilin
OMIM: 606440, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green STRC in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 16, MIM# 603720
Tags
  • SV/CNV

Green STRC in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Deafness, autosomal recessive 16, MIM# 603720
Tags
  • SV/CNV

Green STRC in Additional findings_Paediatric


Level 2: Screening
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Deafness, autosomal recessive

Amber STRC in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category A gene
  • Expert Review Amber
Phenotypes
  • Deafness, autosomal recessive 16, MIM# 603720
Tags
  • deafness
  • technically challenging