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Intellectual disability
Gene: LGI4

LGI4 (leucine rich repeat LGI family member 4)
EnsemblGeneIds (GRCh38): ENSG00000153902
EnsemblGeneIds (GRCh37): ENSG00000153902
OMIM: 608303, Gene2Phenotype
LGI4 is in 5 panels

4 reviews

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Created: 9 Mar 2022, 3:40 p.m. | Last Modified: 9 Mar 2022, 3:40 p.m.

Panel Version: 3.1510

There is not enough evidence for this gene to be rated GREEN at the next major review. The 8/9 of the reported cases of Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect 617468, died either in utero (n=7) or within the neonatal period (n=1) . The only child to survive, was 6 years old at the time of reporting (PMID 28318499) had verbal developmental delay as part of a complex phenotype.
Created: 8 Oct 2020, 2:05 p.m. | Last Modified: 8 Oct 2020, 2:05 p.m.

Panel Version: 3.393

Publications

28318499

Created: 8 Oct 2020, 2:05 p.m.
Last Modified: 8 Oct 2020, 2:05 p.m.
Panel version: 3.1510

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Severe AMC, most affected individuals die in utero or in newborn period; unclear if ID is part of the phenotype.
Created: 8 Feb 2020, 10:49 a.m. | Last Modified: 8 Feb 2020, 10:49 a.m.

Panel Version: 3.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468

Created: 8 Feb 2020, 10:49 a.m.
Last Modified: 8 Feb 2020, 10:49 a.m.
Panel version: 3.0

Louise Daugherty (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: added phenotypes to support inclusion on ID panel
Created: 23 Feb 2018, 2:55 p.m.

New gene/phenotype relationship(s) cataloged in OMIM. AMCNMY is severe neurologic disorder with onset in utero. Most affected individuals die in utero, subject to pregnancy termination because of lack of fetal movements and prenatal evidence of contractures of virtually all joints or die in the neonatal period. Those who survive have generalized contractures and hypotonia. The disorder is caused by a neurogenic defect and poor or absent myelin formation around peripheral nerves rather than by a muscular defect, Xue et al., 2017 PMID: 28318499. Evidence in 9 offspring from 4 unrelated families, combined with evidence from expert list (BRIDGE), the gene can be promoted to Green rating. Listed in Decipher v9.17 some cases with Intellectual disability and global developmental delay.
Created: 17 Aug 2017, 2:05 p.m.

Comment on list classification: Changed from Amber to Green due to evidence in the literature (OMIM update) and from expert list BRIDGE project SPEED project (Specialist Pathology: Evaluating Exomes in Diagnostics project)
Created: 17 Aug 2017, 1:36 p.m.

Comment on phenotypes: addedMIM
Created: 17 Aug 2017, 12:56 p.m.

Comment on list classification: This gene is from an expert list and needs further assessment by the Genomics England curation team to access inclusion and pertinence to this panel.
Created: 28 Jul 2017, 1:03 p.m.

Publications

Created: 17 Aug 2017, 1:06 p.m.

Panel version: 1.376

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_manual . Main mutation mechanism : Loss of function
Created: 27 Jul 2017, 7:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Manual assessment of Genes of interest from literature searches and personal communication

Created: 2 Aug 2017, 8:01 p.m.

Panel version: 1.354

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red

Phenotypes

Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468
AMCNMY
Intellectual disability
Global developmental delay

OMIM

608303

Clinvar variants

Variants in LGI4

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

10 Mar 2022, Gel status: 1

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag for-review was removed from gene: LGI4.

9 Mar 2022, Gel status: 1

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Red was added to LGI4. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Oct 2020, Gel status: 3

Added Tag

Sarah Leigh (Genomics England Curator)

Tag for-review tag was added to gene: LGI4.

12 Mar 2018, Gel status: 3

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

23 Feb 2018, Gel status: 3