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Optic neuropathy v6.34 NDUFS2 Ida Ertmanska Phenotypes for gene: NDUFS2 were changed from Mitochondrial complex I deficiency, nuclear type 6, 618228 to Mitochondrial complex I deficiency, nuclear type 6, OMIM:618228; ?Leber-like hereditary optic neuropathy, autosomal recessive 2, OMIM:620569
Optic neuropathy v6.33 NDUFS2 Ida Ertmanska Publications for gene: NDUFS2 were set to 28031252
Optic neuropathy v6.32 NDUFS2 Ida Ertmanska Classified gene: NDUFS2 as Amber List (moderate evidence)
Optic neuropathy v6.32 NDUFS2 Ida Ertmanska Added comment: Comment on list classification: There are at least 5 unrelated families with biallelic NDUFS2 variants and optic atrophy (LHON-like or Leigh-like presentation). Hence, this gene should be promoted to Green at the next update.
Optic neuropathy v6.32 NDUFS2 Ida Ertmanska Gene: ndufs2 has been classified as Amber List (Moderate Evidence).
Optic neuropathy v6.31 NDUFS2 Ida Ertmanska Tag Q2_26_promote_green tag was added to gene: NDUFS2.
Optic neuropathy v6.31 NDUFS2 Ida Ertmanska changed review comment from: Loeffen et al. 2001, PMID: 11220739: 3 families with AR NDUFS2-related CI deficiency; in 2 of these families, symptoms included OA.

Gerber et al. 2017, PMID: 28031252: one family with 3 affected siblings with LHON-like phenotype, compound het for missense variants.

Fiorini et al. 2023, PMID: 36913248: listed in table (1 French family), but likely corresponds Gerber et al. 2017.

NDUFS2 is associated with AR Mitochondrial complex I deficiency, nuclear type 6, OMIM:618228 and AR ?Leber-like hereditary optic neuropathy, autosomal recessive 2, OMIM:620569 in OMIM (accessed 27th May 2026).; to: Loeffen et al. 2001, PMID: 11220739: 3 families with AR NDUFS2-related CI deficiency; in 2 of these families, symptoms included OA, third proband died shortly after birth.
Family A: hom c.683G>A, p.Arg228Gln - fine horizontal nystagmus and bilateral OA
Family C: hom c.1237T>C, p.Ser413Pro - horizontal nystagmus, pallor of the optic discs

Tuppen et al., 2010 PMID: 20819849: recurrent p.Met292Th NDUFS2 mutation causes Leigh syndrome in multiple families.
Patient 22 - Female patient with psychomotor delay, learning difficulties and episodes of tonic upward eye deviation were noted from infancy. She subsequently developed progressive dystonia affecting all four limbs, optic nerve hypoplasia, dysarthria and dysphagia.
Patient 35 - Male patient, presented at 34 months of age with developmental delay, ataxia, nystagmus, optic atrophy and a mild, persistent metabolic acidosis (Patient 17 in Salemi R et al).
Caveat: 2 homozygotes reported in gnomAD v4, AF = 0.004563 - VUS in ClinVar.

Gerber et al. 2017, PMID: 28031252: one family with 3 affected siblings with LHON-like phenotype, compound het for missense variants p.Tyr53Cys; p.Tyr308Cys.

NDUFS2 is associated with AR Mitochondrial complex I deficiency, nuclear type 6, OMIM:618228 and AR ?Leber-like hereditary optic neuropathy, autosomal recessive 2, OMIM:620569 in OMIM (accessed 27th May 2026).
Optic neuropathy v6.31 NDUFS2 Ida Ertmanska reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11220739, 28031252, 36913248; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, OMIM:618228, ?Leber-like hereditary optic neuropathy, autosomal recessive 2, OMIM:620569; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.71 NDUFS2 Ivone Leong Phenotypes for gene: NDUFS2 were changed from to Mitochondrial complex I deficiency, nuclear type 6, 618228
Optic neuropathy v1.70 NDUFS2 Ivone Leong Publications for gene: NDUFS2 were set to
Optic neuropathy v1.69 NDUFS2 Ivone Leong Mode of inheritance for gene: NDUFS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.28 NDUFS2 Tom Cullup reviewed gene: NDUFS2: Rating: RED; Mode of pathogenicity: ; Publications: 28031252; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6, 618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Optic neuropathy v1.27 NDUFS2 Ivone Leong gene: NDUFS2 was added
gene: NDUFS2 was added to Optic neuropathy. Sources: London North GLH,Expert Review Red
Mode of inheritance for gene: NDUFS2 was set to