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Additional findings_Paediatric

Gene: TPRN

Red List (low evidence)

TPRN (taperin)
EnsemblGeneIds (GRCh38): ENSG00000176058
EnsemblGeneIds (GRCh37): ENSG00000176058
OMIM: 613354, Gene2Phenotype
TPRN is in 5 panels

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BabySeq Category C gene
Phenotypes
  • Deafness, autosomal recessive
OMIM
613354
Clinvar variants
Variants in TPRN
Penetrance
None
Panels with this gene

History Filter Activity

27 Aug 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TPRN was added gene: TPRN was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red Mode of inheritance for gene: TPRN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TPRN were set to Deafness, autosomal recessive