Mitochondrial disorders
Gene: NDUFAF8Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: Newcastle team are aware of 3 unrelated cases and functional studies.
From panels: Possible mitochondrial disorder - nuclear genes (Version 0.187) and Mitochondrial disorder with complex I deficiency (Version 0.65).Created: 23 May 2019, 2:53 p.m.
Comment on phenotypes: No OMIM phenotype (23/05/2019).Created: 23 May 2019, 2:52 p.m.
Tag gene-checked tag was added to gene: NDUFAF8.
Phenotypes for gene: NDUFAF8 were changed from No OMIM phenotype to Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776
Gene: ndufaf8 has been classified as Green List (High Evidence).
Phenotypes for gene: NDUFAF8 were changed from to No OMIM phenotype
Publications for gene: NDUFAF8 were set to
Mode of inheritance for gene: NDUFAF8 was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: NDUFAF8 was added gene: NDUFAF8 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: NDUFAF8 was set to