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Prepair 1000+

Gene: NSUN2

Green List (high evidence)

NSUN2 (NOP2/Sun RNA methyltransferase family member 2)
EnsemblGeneIds (GRCh38): ENSG00000037474
EnsemblGeneIds (GRCh37): ENSG00000037474
OMIM: 610916, Gene2Phenotype
NSUN2 is in 6 panels

1 review

Lauren Thomas (VIctorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants associated with syndromic ID. Features include dysmorphic facies, hypotonia, microcephaly, and short stature.

HGNC approved symbol/name: NSUN2
Is the phenotype(s) severe and onset <18yo? Yes
Known technical challenges? No
Gene reported in 3 independent families: Yes, >20 families
Created: 3 Mar 2025, 4:54 a.m. | Last Modified: 3 Mar 2025, 4:54 a.m.
Panel Version: 1.1566

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 5, MIM# 611091

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Mental retardation, autosomal recessive 5, 611091 (3)
OMIM
610916
Clinvar variants
Variants in NSUN2
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NSUN2 was added gene: NSUN2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NSUN2 were set to Mental retardation, autosomal recessive 5, 611091 (3)