NSUN3

NOP2/Sun RNA methyltransferase 3
OMIM: 617491, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green NSUN3 in Mendeliome


Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 48, MIM# 619012

Green NSUN3 in Mitochondrial disease


Level 2: Metabolic disorders
Version 2.0

3 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Combined oxidative phosphorylation deficiency 48, MIM# 619012

Green NSUN3 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 Green
  • Literature
Phenotypes
  • Combined oxidative phosphorylation deficiency 48, MIM# 619012