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Intellectual disability syndromic and non-syndromic

Gene: EPB41L3

Green List (high evidence)

EPB41L3 (erythrocyte membrane protein band 4.1 like 3)
EnsemblGeneIds (GRCh38): ENSG00000082397
EnsemblGeneIds (GRCh37): ENSG00000082397
OMIM: 605331, Gene2Phenotype
EPB41L3 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

6 cases from 5 unrelated consanguineous families (2nd & 3rd degree) with homozygous LoF variants and a neurodevelopmental condition, including ID and seizures. Epb41l3 shRNA-mediated downregulation in mouse oligodendroglia demonstrated impaired oligodendrocyte function.
Sources: Literature
Created: 2 Oct 2024, 2:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063
OMIM
605331
Clinvar variants
Variants in EPB41L3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: epb41l3 has been classified as Green List (High Evidence).

2 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: epb41l3 has been classified as Green List (High Evidence).

2 Oct 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: EPB41L3 was added gene: EPB41L3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: EPB41L3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EPB41L3 were set to 39292993 Phenotypes for gene: EPB41L3 were set to neurodevelopmental disorder with seizures, hypotonia, and brain imaging abnormalities MONDO:0030063 Review for gene: EPB41L3 was set to GREEN