TPRN

taperin
OMIM: 613354, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TPRN in Mendeliome


Version 1.3795

1 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 1.304

1 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

Red TPRN in Additional findings_Paediatric


Level 2: Screening
Version 0.278

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

Green TPRN in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 1.141

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