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Intellectual disability syndromic and non-syndromic

Gene: LGI4

Red List (low 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Severe AMC, most affected individuals die in utero or in newborn period; unclear if ID is truly part of the phenotype.
Created: 6 Dec 2019, 2:09 a.m. | Last Modified: 6 Dec 2019, 2:09 a.m.
Panel Version: 0.582

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Genetic Health Queensland
Phenotypes
  • Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468
OMIM
608303
Clinvar variants
Variants in LGI4
Penetrance
None
Panels with this gene

History Filter Activity

6 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lgi4 has been classified as Red List (Low Evidence).

6 Dec 2019, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LGI4 were changed from to Arthrogryposis multiplex congenita, neurogenic, with myelin defect, MIM#617468

6 Dec 2019, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: LGI4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

6 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lgi4 has been classified as Red List (Low Evidence).

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: LGI4 was added gene: LGI4 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: LGI4 was set to Unknown