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| Intellectual disability v11.60 | NSUN6 | Ida Ertmanska Classified gene: NSUN6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.60 | NSUN6 | Ida Ertmanska Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.60 | NSUN6 | Ida Ertmanska Gene: nsun6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v11.59 | NSUN6 |
Ida Ertmanska changed review comment from: 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. 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. Sources: Literature; to: 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 |
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| Intellectual disability v11.59 | NSUN6 |
Ida Ertmanska 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 Added comment: 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. 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. Sources: Literature |
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