Optic neuropathy
Gene: NDUFS1EnsemblGeneIds (GRCh38): ENSG00000023228
EnsemblGeneIds (GRCh37): ENSG00000023228
OMIM: 157655, Gene2Phenotype
NDUFS1 is in 15 panels
2 reviews
Ida Ertmanska (Genomics England Curator)
Comment on list classification: There are now 3 unrelated cases reported with biallelic NDUFS1 variants and optic neuropathy (LHON-like or syndromic CI-deficiency presentation). Hence, this gene should be promoted to Green at the next update.Created: 27 May 2026, 12:29 p.m. | Last Modified: 27 May 2026, 12:29 p.m.
Panel Version: 6.37
Benit et al. (2001), PMID: 11349233
3 families with AR NDUFS1-related CI deficiency; in 1 of these families (family 4), symptoms included OA. Proband 4 was comp het for NDUFS1 c.664–666del (NM_005006.7:c.666_668del (p.Ile223del)) and c.755A>G, p.Asp252Gly.
Zheng et al. (2025), PMID: 39423307
Large optic atrophy cohort. 2 families with AR OA/LHON-like and NDUFS1 comp het variants: p.Arg158His/p.Asp138Ala and p.His66Leu/p.Ser457Ilefs*7.
NDUFS1 is associated with AR Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 in OMIM (accessed 27th May 2026).Created: 27 May 2026, 12:28 p.m. | Last Modified: 27 May 2026, 12:28 p.m.
Panel Version: 6.36
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
Publications
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5, 618226
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- London North GLH
- Phenotypes
-
- Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
- Tags
- OMIM
- 157655
- Clinvar variants
- Variants in NDUFS1
- Penetrance
- None
- Publications
- Panels with this gene
-
- DDG2P
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
- Inherited white matter disorders
- Fetal anomalies
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Likely inborn error of metabolism
- Paediatric or syndromic cardiomyopathy
- Mitochondrial disorder with complex I deficiency
- Intellectual disability
- Paediatric pseudo-obstruction syndrome
- Optic neuropathy
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
History Filter Activity
Set publications
Ida Ertmanska (Genomics England Curator)Publications for gene: NDUFS1 were set to
Set Phenotypes
Ida Ertmanska (Genomics England Curator)Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
Entity classified by Genomics England curator
Ida Ertmanska (Genomics England Curator)Gene: ndufs1 has been classified as Amber List (Moderate Evidence).
Added Tag
Ida Ertmanska (Genomics England Curator)Tag Q2_26_promote_green tag was added to gene: NDUFS1.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: NDUFS1 were changed from MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5, 618226 to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: NDUFS1 were changed from to MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5, 618226
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: NDUFS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: NDUFS1 was added gene: NDUFS1 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red Mode of inheritance for gene: NDUFS1 was set to