Intellectual disability update Jan 2018

Gene: MTTP

Red List (low evidence)

Comment on publications: Added additional publication from external clinical review recommendation (PMID:10679949,18611256, 27160094)

Created: 5 Mar 2018, 3:50 p.m.

changed from amber due to clinical review feedback

Created: 5 Mar 2018, 3:48 p.m.

After internal clinical review it was decided to keep this gene as red, the associated disorder if beyond the scope of the ID panel and a better for the hereditary ataxia panel. There is some reference to ID in one paper where 2 Turkish sibs born to consanguineous parents had mutations in MTTP with some ID (PMID: 27160094) - one of the sibs school perfomance was "not good" and although the other was more delayed he also had significant early onset ataxia. It is possible that the sibs could have had a second condition causing their ID. Other papers that mentioning MTTP mutations (PMID: 10679949 and 18611256) have no specific mention of ID.

Created: 5 Mar 2018, 3:48 p.m.

To be reviewed by the clinical team, need to check inclusion for this disorder on ID panel. It is thought that most people with ataxia neuropathy spectrum also have severe brain dysfunction (encephalopathy) and seizures.

Created: 28 Feb 2018, 6:44 p.m.

Comment on publications: added publication to support known cases with Abetalipoproteinemia.

Created: 28 Feb 2018, 6:44 p.m.

Comment on phenotypes: added phenotype from OMIM. Abetalipoproteinemia causes progressive ataxic neuropathy.

Created: 28 Feb 2018, 5:50 p.m.