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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

2 reviews

Caroline Wright (Sanger)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5

Publications

Lu Raymond (university of cambridge )

Green List (high evidence)

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Mental Retardation, Recessive
  • Mental retardation, autosomal recessive 5, 611091
  • AUTOSOMAL- RECESSIVE INTELLECTUAL DISABILITY MRT5
OMIM
610916
Clinvar variants
Variants in NSUN2
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to NSUN2.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 4

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

NSUN2 was added to Intellectual disabilitypanel. Source: Expert Review Green

24 Jun 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

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

24 Jun 2015, Gel status: 2

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

24 Jun 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