Mitochondrial disease
Gene: NDUFV2
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 variantsCreated: 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
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)
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 skippingCreated: 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
Publications for gene: NDUFV2 were set to 12754703; 19167255; 26008862
Gene: ndufv2 has been classified as Green List (High Evidence).
Tag deep intronic tag was added to gene: NDUFV2. Tag founder tag was added to gene: NDUFV2.
Mode of inheritance for gene: NDUFV2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFV2 were changed from to Mitochondrial complex I deficiency, nuclear type 7 (MIM#618229)
Publications for gene: NDUFV2 were set to
Mode of inheritance for gene: NDUFV2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
gene: NDUFV2 was added gene: NDUFV2 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFV2 was set to Unknown