Likely inborn error of metabolism - targeted testing not possible
Gene: NDUFAF6Comment on list classification: Promotion of this gene from red to green on this panel is appropriate, based on the review in the Undiagnosed metabolic disorders panel, including new publicationsCreated: 21 Mar 2017, 12:56 p.m.
Comment on mode of inheritance: mitochondrialCreated: 21 Mar 2017, 12:55 p.m.
PMID: 18614015 1 family (2 affecteds) , PMID:27623250 1 affected, PMID: 26741492 4 unrelated affecteds. Seven variants listed in OMIM . On Radboud MENDELIOME/MCA MITOCHONDRIAL DISORDERS panelCreated: 23 Feb 2017, 5:15 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome due to mitochondrial complex I deficiency, 256000
Publications
Source NHS GMS was added to NDUFAF6. Source London North GLH was added to NDUFAF6.
Ellen McDonagh: Comment on mode of pathogenici
Added phenotypes Leigh syndrome due to mitochondrial complex I deficiency, 256000; Complex I (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors) for gene: NDUFAF6 Publications for gene NDUFAF6 were changed from 26741492; 18614015; 27623250 to 27604308
gene: NDUFAF6 was added gene: NDUFAF6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF6 were set to 26741492; 18614015; 27623250 Phenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000; Isolated complex I deficiency