OTUD7A

OTU deubiquitinase 7A
OMIM: 612024, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green OTUD7A in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790
Tags
  • SV/CNV

Green OTUD7A in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

4 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790
Tags
  • SV/CNV

Green OTUD7A in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with hypotonia and seizures, MIM# 620790
Tags
  • SV/CNV