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Intellectual disability

Gene: NDUFAF2

Amber List (moderate evidence)

NDUFAF2 (NADH:ubiquinone oxidoreductase complex assembly factor 2)
EnsemblGeneIds (GRCh38): ENSG00000164182
EnsemblGeneIds (GRCh37): ENSG00000164182
OMIM: 609653, Gene2Phenotype
NDUFAF2 is in 14 panels

5 reviews

Helen Brittain (Genomics England Curator)

Comment when marking as ready: Phenotype not a clear fit (more consistent with encephalopathy/complex neurodegeneration). Further cases needed to delineate this.and therefore the clinical utility on the ID panel
Created: 8 Mar 2018, 9:40 p.m.
Comment on list classification: Presentations in association with NDUFAF2 appear to include ataxia and more complex neurodegeneration/encephalopathy rather than primarily ID. In view of the heterogeneity of Leigh syndrome / mitochondrial complex 1 deficiency the number of cases from which to draw phenotypic conclusions is relatively limited. Further evidence needed to assess clinical utility on the ID panel.
Created: 8 Mar 2018, 9:39 p.m.

Sarah Leigh (Genomics England Curator)

Associated with phenotypes in OMIM and as a probable G2P association for Leigh syndrome 256000. At least 4 variants reported in 5 cases of Leigh syndrome (including a brother and sister). 4/5 died within the first 2 years of life with a neuropathological diagnosis of Leigh syndrome and varying degrees of psychomotor delay.
Created: 8 Mar 2018, 2:24 p.m.

Caroline Wright (Sanger)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
LEIGH SYNDROME (NUCLEAR DNA MUTATION)

Publications

  • 0

Lu Raymond (university of cambridge )

I don't know

Richard Scott (Genomics England Curator)

Comment on list classification: Await further evidence from mitochondrial panel reviews but exclude as things stand
Created: 7 Feb 2016, 11:38 p.m.

History Filter Activity

12 Mar 2018, Gel status: 2

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: 2

Added New Source, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to NDUFAF2. Panel: Intellectual disability Publications for gene NDUFAF2 was set to ['16200211', '20818383', '20571988']

7 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

7 Feb 2016, Gel status: 1

Gene classified by Genomics England curator

Richard Scott (Genomics England Curator)

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

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

NDUFAF2 was created by ellenmcdonagh

13 Nov 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NDUFAF2 was added to Intellectual disabilitypanel. Sources: Expert Review Amber