NSUN2

NOP2/Sun RNA methyltransferase family member 2
OMIM: 610916, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Red NSUN2 in Cataract


Level 2: Ophthalmological disorders
Version 0.366

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Mental retardation, autosomal recessive 5, MIM# 611091
  • Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features

Green NSUN2 in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mental retardation, autosomal recessive 5 - MIM#611091

Green NSUN2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 0.6063

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal recessive 5 - MIM#611091

Green NSUN2 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 0.109

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 5, 611091 (3)

Amber NSUN2 in Fetal anomalies


Version 1.255

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Genomics England PanelApp
  • Literature
Phenotypes
  • Mental retardation, autosomal recessive 5, MIM# 611091

Green NSUN2 in Prepair 1000+


Level 2: Screening
Version 1.9

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 5, 611091 (3)