EXOSC4

exosome component 4
OMIM: 606491, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red EXOSC4 in Brain Calcification


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092

Amber EXOSC4 in Mendeliome


Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092

Amber EXOSC4 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092