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Intellectual disability

Gene: NDUFA10

Red List (low evidence)
NDUFA10 (NADH:ubiquinone oxidoreductase subunit A10)
EnsemblGeneIds (GRCh38): ENSG00000130414
EnsemblGeneIds (GRCh37): ENSG00000130414
OMIM: 603835, Gene2Phenotype
NDUFA10 is in 14 panels

1 review

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Currently there is not enough evidence to support this gene being upgraded from the Red rating.
Created: 26 Feb 2018, 11:42 a.m.
Comment on phenotypes: Added Phenotype from OMIM and Orphanet. Mutations have been identified in both nuclear- and mitochondrial-encoded genes involved in energy metabolism, including mitochondrial respiratory chain complexes I, II, III, IV, and V, which are involved in oxidative phosphorylation and the generation of ATP, and components of the pyruvate dehydrogenase complex. This gene is one of the nuclear Gene-Encoded genes that cause Leigh syndrome. While there are pathogenic variants in more than 50 nuclear genes that can cause nuclear gene-encoded Leigh syndrome, all but a few of these gene defects are associated with a very limited number of cases, and only some result in an intellectual disability phenotype (Developmental regression,Cognitive dysfunction), this has not been observed in the two unrelated reported cases for NDUFA10, but this could be more conclusive when more cases are reported.
Created: 26 Feb 2018, 11:33 a.m.
Comment on publications: added publications of reported cases and current GeneReview for Nuclear Gene-Encoded Leigh Syndrome Overview.
Created: 26 Feb 2018, 11:29 a.m.
Created: 26 Feb 2018, 11:29 a.m.

Panel version: Imported from Intellectual disability update Jan 2018 panel version 0.92

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

12 Mar 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFA10 was added to Intellectual disability panel. Sources: Gene2Phenotype

12 Mar 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

NDUFA10 was created by Ellen McDonagh