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Arthrogryposis

Gene: LGI4

Green List (high evidence)

LGI4 (leucine rich repeat LGI family member 4)
EnsemblGeneIds (GRCh38): ENSG00000153902
EnsemblGeneIds (GRCh37): ENSG00000153902
OMIM: 608303, Gene2Phenotype
LGI4 is in 6 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Changed from Amber to Green after clinical review
Created: 30 Aug 2017, 11:31 a.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.

Need to check with clinical team if this gene should be on this panel. Noted that 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.
Created: 17 Aug 2017, 2:27 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis Multiplex Congenita; Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468; AMCNMY

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Other
Phenotypes
  • Arthrogryposis Multiplex Congenita
  • Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468
  • AMCNMY
OMIM
608303
Clinvar variants
Variants in LGI4
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Aug 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Aug 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

LGI4 was added to Arthrogryposispanel. Sources: Literature,Other

17 Aug 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

LGI4 was created by LouiseD