Mitochondrial disease

Gene: NDUFV2

Green List (high evidence)

PMID 30770271 - Zhang et al 2019 - report 2 unrelated individuals with biallelic variants and progressive cavitating leukoencephalopathy

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

Created: 22 Mar 2022, 8:04 p.m. | Last Modified: 22 Mar 2022, 8:04 p.m.

Panel Version: 0.746

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 7 - MIM#618229

Publications

• 30770271
• 33811136
• 34405929

Green List (high evidence)

Borderline Green rating. The intronic variant is the commonest variant reported so far, with minimal evidence of other variants being disease-causing. There are at least two more reported in ClinVar, however note most variants have been classified as VOUS or lower.

Created: 24 Sep 2020, 8 a.m. | Last Modified: 24 Sep 2020, 8 a.m.

Panel Version: 0.501

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229)

I don't know

PMID: 12754703
- 3 siblings of African ancestry, homozygous for a splice variant IVS2+5_+8delGTTA

PMID: 19167255;
- 1x patient homozygous for the same splice variant as above.

PMID: 26008862; (2 families)
- 2 siblings cHet for the splice variant above + a truncating variant
- 2 siblings homozygous for the same splice variant

*Splice variant proven to lead to exon 2 skipping

Created: 21 Sep 2020, 12:01 a.m. | Last Modified: 21 Sep 2020, 12:01 a.m.

Panel Version: 0.498

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229)

Publications

• 12754703
• 19167255
• 26008862