Regression
Gene: NDUFA11
Original report of 3 apparently unrelated families: single homozygous variant in all three, suggesting founder effect. Presentation was severe in early infancy, rather than with neurodevelopmental regression. More recent report of a late-onset myopathy and compound het variants.Created: 18 Feb 2022, 4:33 a.m. | Last Modified: 18 Feb 2022, 4:33 a.m.
Panel Version: 0.398
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Publications
Gene: ndufa11 has been classified as Red List (Low Evidence).
Phenotypes for gene: NDUFA11 were changed from Mitochondrial complex I deficiency, nuclear type 14, MIM#618236 to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Phenotypes for gene: NDUFA11 were changed from to Mitochondrial complex I deficiency, nuclear type 14, MIM#618236
Publications for gene: NDUFA11 were set to 18306244; 31074871
Publications for gene: NDUFA11 were set to
Mode of inheritance for gene: NDUFA11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: ndufa11 has been classified as Red List (Low Evidence).
gene: NDUFA11 was added gene: NDUFA11 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: NDUFA11 was set to Unknown