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  3. NSUN2
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Intellectual_disability

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 4 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Known gene (Grozeva et al, 2015)
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mental Retardation, Recessive
  • Mental retardation, autosomal recessive 5, 611091
  • Intellectual disability
OMIM
610916
Clinvar variants
Variants in NSUN2
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

NSUN2 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

NSUN2 was added to Intellectual_disabilitypanel. Source: Known gene (Grozeva et al, 2015)

8 Oct 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal

8 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

NSUN2 was added to Intellectual_disabilitypanel. Source: Radboud University Medical Center, Nijmegen

8 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NSUN2 was added to Intellectual_disabilitypanel. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen