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Intellectual disability

Gene: NSUN6

Amber List (moderate evidence)
NSUN6 (NOP2/Sun RNA methyltransferase family member 6)
EnsemblGeneIds (GRCh38): ENSG00000241058
EnsemblGeneIds (GRCh37): ENSG00000241058
OMIM: 617199, Gene2Phenotype
NSUN6 is in 3 panels

1 review

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There are 3 unrelated probands reported in literature with 3 unique homozygous NSUN6 variants and a neurodevelopmental disorder. Functional evidence (RNA spectrometry, methylation assays, and Drosophila model) is supportive of this association. Hence, NSUN6 can be promoted to Green on Intellectual disability.
Created: 26 Oct 2026, 3:31 p.m. | Last Modified: 26 Oct 2026, 3:31 p.m.
Panel Version: 11.60
PMID: 37226891 Mattioli et al., 2023
Study identified 3 unrelated consanguineous families (from Yemen, Pakistan, and Iran) with 3 unique homozygous NSUN6 variants, manifesting in a neurodevelopmental disorder. The affected individuals presented with developmental delay, intellectual disability, motor delay, and behavioral anomalies. Seq method: exome sequencing.
Functional evidence: Homozygous ablation of the NSUN6 ortholog in Drosophila led to locomotion and learning impairment. Also, methylation assay and RNA mass spectrometry showed that the missense variant identified in the third family has lost its enzymatic activity and is unable to bind the methyl donor S-adenosyl-L-methionine.

NSUN6 is associated with Intellectual developmental disorder, autosomal recessive 82, MIM:620779 (OMIM accessed 26th Oct 2026).
Sources: Literature
Created: 26 Oct 2026, 3:28 p.m. | Last Modified: 26 Oct 2026, 3:29 p.m.
Panel Version: 11.59

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 82, OMIM:620779; intellectual developmental disorder, autosomal recessive 82, MONDO:0968944

Publications

Created: 26 Oct 2026, 3:28 p.m.
Last Modified: 26 Oct 2026, 3:29 p.m.
Panel version: 11.59

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 82, OMIM:620779
  • intellectual developmental disorder, autosomal recessive 82, MONDO:0968944
Tags
Q4_26_promote_green
OMIM
617199
Clinvar variants
Variants in NSUN6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 Oct 2026, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

Gene: nsun6 has been classified as Amber List (Moderate Evidence).

26 Oct 2026, Gel status: 1

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

Ida Ertmanska (Genomics England Curator)

gene: NSUN6 was added gene: NSUN6 was added to Intellectual disability. Sources: Literature Q4_26_promote_green tags were added to gene: NSUN6. Mode of inheritance for gene: NSUN6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NSUN6 were set to 37226891 Phenotypes for gene: NSUN6 were set to Intellectual developmental disorder, autosomal recessive 82, OMIM:620779; intellectual developmental disorder, autosomal recessive 82, MONDO:0968944 Review for gene: NSUN6 was set to GREEN