Likely inborn error of metabolism - targeted testing not possible
Gene: NDUFV2Comment on mode of inheritance: Confirmed on OMIM.Created: 8 Feb 2016, 2:57 p.m.
Comment on list classification: Expert review suggests this gene should be promoted from amber.Created: 8 Feb 2016, 2:55 p.m.
Phenotypes for gene: NDUFV2 were changed from Mitochondrial complex I deficiency, 252010; Isolated complex I deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Mitochondrial Respiratory Chain Complex I Deficiency to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits)
Source NHS GMS was added to NDUFV2. Source London North GLH was added to NDUFV2.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS structural subunits); Isolated complex I deficiency for gene: NDUFV2 Publications for gene NDUFV2 were changed from to 27604308
gene: NDUFV2 was added gene: NDUFV2 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, 252010; Mitochondrial Respiratory Chain Complex I Deficiency; Isolated complex I deficiency