COCH

cochlin
OMIM: 603196, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green COCH in Mendeliome


Version 1.1902

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 9, MIM# 601369
  • Deafness, autosomal recessive 110, MIM# 618094

Green COCH in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.194

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 9, MIM# 601369
  • Deafness, autosomal recessive 110, MIM# 618094

Green COCH in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.63

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal dominant 9, MIM# 601369
  • Deafness, autosomal recessive 110, MIM# 618094

Green COCH in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Deafness, autosomal dominant 9, MIM# 601369
  • Deafness, autosomal recessive 110, MIM# 618094

Green COCH in BabyScreen+ newborn screening


Level 2: Screening
Version 1.114

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category A gene
Phenotypes
  • Deafness, autosomal recessive 110, MIM# 618094
Tags
  • deafness