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BRIDGE_SPEED_NEURO_20170705

Gene: LGI1

Green List (high evidence)

LGI1 (leucine rich glioma inactivated 1)
EnsemblGeneIds (GRCh38): ENSG00000108231
EnsemblGeneIds (GRCh37): ENSG00000108231
OMIM: 604619, Gene2Phenotype
LGI1 is in 3 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_2_4_2017;in_omim_20150205_epilepsies . Main mutation mechanism : NA
Created: 28 Jul 2017, 9:33 a.m.

Mode of inheritance
Unknown

Publications

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Green
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Epilepsy, familial temporal lobe, 1, 600512
OMIM
604619
Clinvar variants
Variants in LGI1
Penetrance
Complete
Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

LGI1 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

LGI1 was created by LouiseD