White matter disorders and cerebral calcification - narrow panel
Gene: NDUFV2
Liu et al., 2022 (PMID: 33811136) report on two sibling pairs of two unrelated Chinese families presenting with progressive cavitating leukoencephalopathy associated with distinct biallelic variants in this gene. Functional analyses demonstrated impaired structural stability and function of the NDUFV2 protein and complex I deficiency was confirmed in affected individuals' fibroblasts and a muscle biopsy.
This is the first report linking NDUFV2 with a leukoencephalopathy phenotype and therefore rating as Amber for now until further cases emerge.
Sources: LiteratureCreated: 5 Apr 2022, 3:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229; Progressive cavitating leukoencephalopathy, MONDO:0015349
Publications
Gene: ndufv2 has been classified as Amber List (Moderate Evidence).
gene: NDUFV2 was added gene: NDUFV2 was added to White matter disorders and cerebral calcification - narrow panel. Sources: Literature watchlist tags were added to gene: NDUFV2. Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFV2 were set to 33811136 Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229; Progressive cavitating leukoencephalopathy, MONDO:0015349 Review for gene: NDUFV2 was set to AMBER