Intellectual disability update Jan 2018

Gene: MT-ND4

Red List (low evidence)

Comment when marking as ready: No clear evidence linking mitochondrial point mutations in this gene, with causation of phenotypes appropriate for inclusion on this panel.

Created: 5 Mar 2018, 1:49 p.m.

12707444 reports a 67 year old man with a later onset of features than would be appropriate for this panel. The variant is the same as a reported LHON variant, therefore there is a risk of incidental findings if included. 29340697 demonstrates links between mitochondrial dysfunction (as measured by estimating mitochondrial copy number through assessing the copy number of mitochondrial genes MT-ND4 & MT-ND1) and a cohort with ID/Autism. There is no clear evidence for pathogenic variants in MT-ND4 and causation of ID on the current evidence. Considered red at present.

Created: 5 Mar 2018, 1:48 p.m.

Associated with phenotype in OMIM, not in G2P. At least 1 variant reported in a 67 year old man with Mitochondrial complex I deficiency and cognitive deficits (PMID 12707444). Copy number losses reported in autism spectrum disorder; intellectual disability cases (PMID 29340697).

Created: 28 Feb 2018, 12:23 p.m.