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Intellectual disability

Gene: MTTP

Red List (low evidence)
MTTP (microsomal triglyceride transfer protein)
EnsemblGeneIds (GRCh38): ENSG00000138823
EnsemblGeneIds (GRCh37): ENSG00000138823
OMIM: 157147, Gene2Phenotype
MTTP is in 15 panels

1 review

Louise Daugherty (Genomics England Curator)

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.
Created: 28 Feb 2018, 5:47 p.m.

Panel version: Imported from Intellectual disability update Jan 2018 panel version 0.331

History Filter Activity

12 Mar 2018, Gel status: 1

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: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MTTP was added to Intellectual disability panel. Sources: Expert Review Red

12 Mar 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MTTP was created by Ellen McDonagh