Intellectual disability update Jan 2018

Gene: MTMR8

Red List (low evidence)

Comment on publications: Candidate intellectual disability gene suggested by Najmabadi et al., (2011) PMID:19377476 and Grozeva et al, (2015) PMID: 26350204. In the study conducted by Holman et al., (2013) PMID: 22670894 they found that the MTMR8 gene was deleted in all three patients with ID, suggesting it contributes to the ID in the Intellectual Disability Osteopathia striata congenita with cranial sclerosis contiguous gene deletion phenotype.

Created: 1 Mar 2018, 4:04 p.m.

This is a candidate intellectual disability gene Grozeva et al., (2015) PMID: 26350204, Najmabadi et al., (2011) PMID:19377476 however no evidence to date has been found to support the association between variants of this gene and an observed intellectual disability phenotype, variant only found once, nonrecurrent change.This gene is also not currently a DD gene in Gene2Phenotype.

Created: 1 Mar 2018, 3:56 p.m.