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Intellectual disability update Jan 2018

Gene: NDUFA11

Red List (low evidence)
NDUFA11 (NADH:ubiquinone oxidoreductase subunit A11)
EnsemblGeneIds (GRCh38): ENSG00000174886
EnsemblGeneIds (GRCh37): ENSG00000174886
OMIM: 612638, Gene2Phenotype
NDUFA11 is in 9 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Associated with Mitochondrial complex I deficiency 252010 in OMIM. 1 family reported by Berger et al 2008 (PMID:18306244) with 3 children with slow psychomotor development. No other reports of intellectual disability associated with this gene found in OMIN, Gene2Phenotype or PubMed searches.
Created: 8 Mar 2018, 3:54 p.m.
Created: 8 Mar 2018, 3:21 p.m.

Panel version: 0.461

History Filter Activity

8 Mar 2018, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for NDUFA11 were set to Mitochondrial complex I deficiency 252010

8 Mar 2018, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for NDUFA11 were set to 18306244

8 Mar 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFA11 was added to Intellectual disability update Jan 2018 panel. Sources: Radboud University Medical Center, Nijmegen,Expert Review Red

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

NDUFA11 was created by Ellen McDonagh