Mitochondrial disorders
Gene: SUPV3L1EnsemblGeneIds (GRCh38): ENSG00000156502
EnsemblGeneIds (GRCh37): ENSG00000156502
OMIM: 605122, Gene2Phenotype
SUPV3L1 is in 3 panels
2 reviews
Ida Ertmanska (Genomics England Curator)
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Mar 2026, 11:31 a.m. | Last Modified: 11 Mar 2026, 11:31 a.m.
Panel Version: 9.43
Sarah Leigh (Genomics England Curator)
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: LiteratureCreated: 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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- Phenotypes
-
- Mitochondrial RNA Helicase SUPV3L1-Associated neurodegenerative syndrome
- Tags
- OMIM
- 605122
- Clinvar variants
- Variants in SUPV3L1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: SUPV3L1.
Removed Tag
Ida Ertmanska (Genomics England Curator)Tag Q1_25_ promote_green was removed from gene: SUPV3L1.
Added New Source, Added New Source, Status Update
Ida Ertmanska (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)
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: supv3l1 has been classified as Amber List (Moderate Evidence).
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: SUPV3L1 were set to 35023579; 39596606
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 Mitochondrial disorders. 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