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  3. NSUN2
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Cataract

Gene: NSUN2

Red List (low 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)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 5, MIM# 611091

Created: 1 Feb 2021, 7:58 a.m.
Last Modified: 1 Feb 2021, 7:58 a.m.
Panel version: 0.260

Tiong Tan (Victorian Clinical Genetics Services)

I don't know

Two siblings compound het for two variants c.546_547insCT, p.Met183Leufs*13; c.1583del, p.Pro528Hisfs*19 and juvenile cataracts
Sources: Literature
Created: 1 Feb 2021, 4:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features

Publications

Created: 1 Feb 2021, 4:54 a.m.

Panel version: 0.260

Details

Mode of Inheritance
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
OMIM
610916
Clinvar variants
Variants in NSUN2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

1 Feb 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NSUN2 were changed from Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features to Mental retardation, autosomal recessive 5, MIM# 611091; Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features

1 Feb 2021, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: NSUN2 were set to

1 Feb 2021, Gel status: 1

Entity classified by Genomics England curator

Tiong Tan (Victorian Clinical Genetics Services)

Gene: nsun2 has been classified as Red List (Low Evidence).

1 Feb 2021, Gel status: 1

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: NSUN2 was added gene: NSUN2 was added to Cataract. Sources: Literature Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NSUN2 were set to Severe intellectual disability, microcephaly, postnatal growth retardation, and dysmorphic facial features Penetrance for gene: NSUN2 were set to Complete Review for gene: NSUN2 was set to AMBER