BRIDGE_SPEED_NEURO_20170705

Gene: MRE11

Nomenclature history profile of this gene (from correspondence with HGNC) : a change was made in the 1990s of the gene symbol MRE11 to MRE11A which left a withdrawn MRE11 gene symbol even though this was really just a rename. Then, recently, MRE11A was named back to MRE11after MRE11B turned out to be a pseudogene and was renamed to MRE11P1. HGNC will now delete the MRE11~withdrawn symbol so that this confusion will not occur again. There is now only one MRE11 record, with HGNC:7230.

Created: 4 Aug 2017, 8:08 a.m.

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_omim_20150205_movement . Main mutation mechanism : Loss of function

Created: 28 Jul 2017, 9:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

• 25529582
• omim.org