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| Genetic Epilepsy v0.2028 | NDUFV2 | Lauren Rogers reviewed gene: NDUFV2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1500 | NDUFV2 | Zornitza Stark Marked gene: NDUFV2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1500 | NDUFV2 | Zornitza Stark Gene: ndufv2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1500 | NDUFV2 | Zornitza Stark Classified gene: NDUFV2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1500 | NDUFV2 | Zornitza Stark Gene: ndufv2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1492 | NDUFV2 |
Krithika Murali gene: NDUFV2 was added gene: NDUFV2 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFV2 were set to 33811136; 34405929; 12754703; 26008862; 30770271; 19167255 Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229 Review for gene: NDUFV2 was set to AMBER Added comment: 2 siblings diagnosed with seizures age 3 and 9 months. Seizures not reported in other cases. -- PMID 33811136 Liu et al 2021 - describe 4 individuals from 2 unrelated families with progressive cavitating leukoencephalopathy, recurring episodes of acute/subacute developmental regression in the first years of life, followed by gradual remissions and prolonged periods of stability. Variant specific supportive functional evidence provided. MRI brain features - cystic changes in cerebral white matter, with corpus callosum involvement reported in 2 siblings. PMID 34405929 Kishita et al 2021 - report two unrelated individuals with biallelic variants PMID 12754703 Benit et al 2003 - report homozygous NDUFV2 4-bp deletion in intron 2 (IVS2+5_+8delGTAA) of the associated with early onset hypertrophic cardiomyopathy with trunk hypotonia in three affected sibs of a consanguineous family PMID 26008862 Cameron et al 2015 report 5 affected individuals from 2 unrelated families - Family 1 - intronic mutation (c.IVS2 þ 1delGTAA) + (c.669_670insG, p.Ser224Valfs*3) (hypertrophic cardiomyopathy, brain atrophy) - Family 2 - homozygous intronic c.IVS2 þ 1delGTAA mutation (proband - seizures started at 2-3 months of age. Regression with progressive spasticity, nystagmus, optic atrophy and microcephaly was noted at 10 months of age. Repeat CT scans showed progressive caudate and putaminal cavitation, brain atrophy. Sibling - FTT, progressive microcephaly, spasticity, cerebral atrophy, still alive at 32 years. Affected male sibling - seizures age 9 months. PMID 30770271 - Zhang et al 2019 - report 2 unrelated individuals with biallelic variants and progressive cavitating leukoencephalopathy PMID 19167255 Pagniez-Mammeri et al 2009 - limited clinical information, x1 individual homozygous for splice site variant Sources: Literature |
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