BRIDGE_SPEED_NEURO_20170705
Gene: NEXMIF

NEXMIF (neurite extension and migration factor)
EnsemblGeneIds (GRCh38): ENSG00000050030
EnsemblGeneIds (GRCh37): ENSG00000050030
OMIM: 300524, Gene2Phenotype
NEXMIF is in 4 panels

1 review

BRIDGE consortium (NIHRBR-RD)

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_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017 . Main mutation mechanism : Uncertain
Created: 28 Jul 2017, 9:32 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Publications

25529582

Created: 2 Aug 2017, 4:29 p.m.

Panel version: 0.191

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Mental retardation, X-linked 98, 300912

OMIM

300524

Clinvar variants

Variants in NEXMIF

Penetrance

Complete

Panels with this gene

History Filter Activity

5 Nov 2017, Gel status: 3

Changed Gene Name

GEL ()

KIAA2022 was changed to NEXMIF

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

KIAA2022 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created