Intellectual disability update Jan 2018

Gene: NDUFAF2

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.

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.