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Likely inborn error of metabolism

Gene: SUPV3L1

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

2 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

SUPV3L1 is currently being recommended for promotion to green rating on Mitochondrial disorders panel (https://panelapp.genomicsengland.co.uk/panels/112/gene/SUPV3L1/) Hence, this gene can also be promoted to green rating on this panel in the next GMS update.
Created: 10 Jun 2025, 9:29 a.m. | Last Modified: 10 Jun 2025, 9:29 a.m.
Panel Version: 8.49

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Jun 2025, 9:29 a.m.
Last Modified: 10 Jun 2025, 9:29 a.m.
Panel version: 8.49

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, 2:07 p.m. | Last Modified: 25 Mar 2025, 2:07 p.m.
Panel Version: 8.16
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, 2:09 p.m.
Panel Version: 8.16

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, 2:09 p.m.
Copied from panel: Mitochondrial disorders v9.19

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome
Tags
Q2_25_ promote_green
OMIM
605122
Clinvar variants
Variants in SUPV3L1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

10 Jun 2025, Gel status: 2

Removed Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ promote_green was removed from gene: SUPV3L1. Tag Q2_25_ promote_green tag was added to gene: SUPV3L1.

10 Jun 2025, Gel status: 2

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: SUPV3L1 was added gene: SUPV3L1 was added to Likely inborn error of metabolism. Sources: Literature,Expert Review Amber 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