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Intellectual disability syndromic and non-syndromic

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 20 families reported.
Created: 28 Mar 2022, 4:30 a.m. | Last Modified: 28 Mar 2022, 4:30 a.m.
Panel Version: 0.4624

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 5 - MIM#611091

Publications

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Biallelic variants associated with syndromic ID
Created: 28 Mar 2022, 12:15 a.m. | Last Modified: 28 Mar 2022, 12:15 a.m.
Panel Version: 0.4621

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 5 - MIM#611091

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Mental retardation, autosomal recessive 5 - MIM#611091
OMIM
610916
Clinvar variants
Variants in NSUN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nsun2 has been classified as Green List (High Evidence).

28 Mar 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NSUN2 were changed from to Mental retardation, autosomal recessive 5 - MIM#611091

28 Mar 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NSUN2 were set to

28 Mar 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: NSUN2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: NSUN2 was added gene: NSUN2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: NSUN2 was set to Unknown