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  2. Bilateral congenital or childhood onset cataracts
  3. NSUN2
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Bilateral congenital or childhood onset cataracts

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 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a phenotype in OMIM and Gene2Phenotype. There is currently not enough evidence to support a gene-disease association so this gene has been given a Red rating.
Created: 17 Mar 2021, 4:46 p.m. | Last Modified: 17 Mar 2021, 4:46 p.m.
Panel Version: 2.65
Created: 17 Mar 2021, 4:46 p.m.
Last Modified: 17 Mar 2021, 4:46 p.m.
Panel version: 2.65

Zornitza Stark (Australian Genomics)

Red List (low evidence)

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, 10:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mental retardation, autosomal recessive 5, MIM# 611091; cataracts

Publications

Created: 1 Feb 2021, 10:36 a.m.

Panel version: 2.59

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Mental retardation, autosomal recessive 5, OMIM:611091
  • cataracts
OMIM
610916
Clinvar variants
Variants in NSUN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Mar 2021, Gel status: 1

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

17 Mar 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

1 Feb 2021, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: NSUN2 was added gene: NSUN2 was added to Cataracts. Sources: Literature Mode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSUN2 were set to 33084202 Phenotypes for gene: NSUN2 were set to Mental retardation, autosomal recessive 5, MIM# 611091; cataracts Review for gene: NSUN2 was set to RED