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  3. NSUN6
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Intellectual disability syndromic and non-syndromic

Gene: NSUN6

Green List (high evidence)
NSUN6 (NOP2/Sun RNA methyltransferase family member 6)
EnsemblGeneIds (GRCh38): ENSG00000241058
EnsemblGeneIds (GRCh37): ENSG00000241058
OMIM: 617199, Gene2Phenotype
NSUN6 is in 2 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Intellectual developmental disorder, autosomal recessive 82, MIM# 620779

Created: 13 Apr 2024, 6:21 a.m.
Last Modified: 13 Apr 2024, 6:21 a.m.
Panel version: 0.5771

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Drosophila KO showed locomotion defects and reduced learning ability. Sufficient evidence for upgrade
Created: 25 Jul 2023, 2:53 a.m. | Last Modified: 25 Jul 2023, 2:59 a.m.
Panel Version: 0.5277

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 Jul 2023, 2:53 a.m.
Last Modified: 25 Jul 2023, 2:59 a.m.
Panel version: 0.5276

Michelle Torres (Victorian Clinical Genetics Services)

I don't know

Three unrelated consanguineous families with developmental delay, intellectual disability, motor delay, and behavioral anomalies. WES detected homozygous variants:
- p.(Leu9Glufs*3): even though authors say is is predicted to cause NMD, it actually is NMD escape. No further studies were performed. A deceased affected sibling and parents were NOT tested.
- p.(Asp323Asn): Shown to result in a misfolded protein. Methylation assay showed mutant could not catalyze m5C deposition in transcribed tRNACys and tRNAThr substrates in vitro. One of the parents and both unaffected siblings were shown to be carriers.
- p.(Glu441Profs*15): truncation (full protein is 470aa) which would result in loss of residues involved in recognition and methylation. Shown to result in a misfolded protein. Parents were shown carriers.
Sources: Literature
Created: 1 Jun 2023, 1:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder MONDO:0700092, NSUN6-related

Publications

Created: 1 Jun 2023, 1:57 a.m.

Panel version: 0.5239

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 82, MIM# 620779
OMIM
617199
Clinvar variants
Variants in NSUN6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Apr 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: NSUN6 were changed from neurodevelopmental disorder MONDO:0700092, NSUN6-related to Intellectual developmental disorder, autosomal recessive 82, MIM# 620779

25 Jul 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: nsun6 has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 2

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

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

1 Jun 2023, Gel status: 0

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: nsun6 has been removed from the panel.

1 Jun 2023, Gel status: 0

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

Michelle Torres (Victorian Clinical Genetics Services)

gene: NSUN6 was added gene: NSUN6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature 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 neurodevelopmental disorder MONDO:0700092, NSUN6-related Review for gene: NSUN6 was set to AMBER