TPRN

taperin
OMIM: 613354, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green TPRN in Mendeliome


Version 1.2302

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 79, MIM# 613307
Green TPRN in Deafness_IsolatedAndComplex


Level 2: Hearing and ear disorders
Version 1.210

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Melbourne Genomics Health Alliance Deafness Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Deafness, autosomal recessive 79, MIM# 613307
Green TPRN in Deafness_Isolated


Level 2: Hearing and ear disorders
Version 1.67

review 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 recessive 79, MIM# 613307
Red TPRN in Additional findings_Paediatric


Level 2: Screening
Version 0.278

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Deafness, autosomal recessive
Green TPRN in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • BabySeq Category C gene
Phenotypes
  • Deafness, autosomal recessive 79, MIM# 613307
Tags
  • deafness