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Intellectual disability

Gene: SUPV3L1

Green List (high evidence)
SUPV3L1 (Suv3 like RNA helicase)
EnsemblGeneIds (GRCh38): ENSG00000156502
EnsemblGeneIds (GRCh37): ENSG00000156502
OMIM: 605122, Gene2Phenotype
SUPV3L1 is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 12 Mar 2026, 1:33 p.m. | Last Modified: 12 Mar 2026, 1:33 p.m.
Panel Version: 9.299
Created: 12 Mar 2026, 1:33 p.m.
Last Modified: 12 Mar 2026, 1:33 p.m.
Panel version: 9.299

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Comment on publications: PMID: 39596606 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Created: 25 Mar 2025, 2:06 p.m. | Last Modified: 25 Mar 2025, 2:06 p.m.
Panel Version: 8.202
Three SUPV3L1 variants have been reported in two unrelated cases with a syndrome that includes ataxia, spasticity, optic atrophy and skin hypopigmentation (ASOASH) and also intellectual disability (PMID: 35023579;39596606).
The homozygous terminating SUPV3L1 variant (NM_003171.3: c.2215C>T, p.Gln739*) reported in the siblings in PMID: 35023579, was shown to results in reduced expression of the truncated protein in the proband's fibroblasts, resulting in a reduction of the mature ND6 mRNA species and also the accumulation of double-stranded RNA. This effect was partly restored using full-length SUPV3L1 cDNA (PMID: 35023579). This variant and the compound heterozygous SUPV3L1 variants (NM_003171.5: c.272-2A>G and c.1924A>C; p.(Ser642Arg) reported in PMID: 39596606 were each inherited from the parents of the proband (PMID: 35023579;39596606). Supportive functional studies were presented in PMID: 35023579 and 39596606.
Sources: Literature
Created: 25 Mar 2025, 2:03 p.m. | Last Modified: 25 Mar 2025, 2:10 p.m.
Panel Version: 8.202

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome

Publications

Created: 25 Mar 2025, 2:03 p.m.
Last Modified: 25 Mar 2025, 2:10 p.m.
Panel version: 8.202

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome
Tags
gene-checked
OMIM
605122
Clinvar variants
Variants in SUPV3L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Mar 2026, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: SUPV3L1.

12 Mar 2026, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q1_25_ promote_green was removed from gene: SUPV3L1.

12 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to SUPV3L1. Source Expert Review Green was added to SUPV3L1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

25 Mar 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: supv3l1 has been classified as Amber List (Moderate Evidence).

25 Mar 2025, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SUPV3L1 were set to 35023579; 39596606

25 Mar 2025, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: SUPV3L1 was added gene: SUPV3L1 was added to Intellectual disability. Sources: Literature Q1_25_ promote_green tags were added to gene: SUPV3L1. Mode of inheritance for gene: SUPV3L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUPV3L1 were set to 35023579; 39596606 Phenotypes for gene: SUPV3L1 were set to Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome Review for gene: SUPV3L1 was set to AMBER