OTUD4

OTU deubiquitinase 4
OMIM: 611744, ClinGen, DECIPHER

2 panels

Panel Reviews Mode of inheritance Details
2 panels

Red OTUD4 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
  • Hypogonadotropic hypogonadism, ataxia & dementia

Red OTUD4 in BabyScreen+ newborn screening


Level 2: Screening
Version 1.116

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Hypogonadotropic hypogonadism, ataxia & dementia