BRIDGE_SPEED_NEURO_20170705
Gene: FIG4

FIG4 (FIG4 phosphoinositide 5-phosphatase)
EnsemblGeneIds (GRCh38): ENSG00000112367
EnsemblGeneIds (GRCh37): ENSG00000112367
OMIM: 609390, Gene2Phenotype
FIG4 is in 13 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_2_4_2017;in_movement_disorder_list . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 9:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25529582
Personal communication with NIHRBRRD BRIDGE SPEED

Created: 2 Aug 2017, 3:12 p.m.

Panel version: 0.191

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE study SPEED NEURO Tier1 Gene
Expert Review Green

Phenotypes

Charcot-Marie-Tooth disease, type 4J, 611228
Amyotrophic lateral
sclerosis 11, 612577
Yunis-Varon syndrome, 216340
?Polymicrogyria, bilateral temporooccipital, 612691

OMIM

609390

Clinvar variants

Variants in FIG4

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

FIG4 was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source