USP18:Ensemblv115

ubiquitin specific peptidase 18
OMIM: 607057, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green USP18 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pseudo-TORCH syndrome 2, MIM# 617397

Green USP18 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Pseudo-TORCH syndrome 2, MIM#617397
Tags
  • treatable

No list USP18 in Mendelian susceptibility to Immune Disorders


Level 2: Immunological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Susceptibility to mycobacterial disease

Green USP18 in Autoinflammatory Disorders


Level 2: Immunological disorders
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Pseudo-TORCH syndrome 2, MIM# 617397

Amber USP18 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Pseudo-TORCH syndrome 2 MIM#617397