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  3. EPB41L3
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Intellectual disability

Gene: EPB41L3

Amber List (moderate evidence)
EPB41L3 (erythrocyte membrane protein band 4.1 like 3)
EnsemblGeneIds (GRCh38): ENSG00000082397
EnsemblGeneIds (GRCh37): ENSG00000082397
OMIM: 605331, Gene2Phenotype
EPB41L3 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Created: 1 May 2025, 10:38 a.m. | Last Modified: 1 May 2025, 10:38 a.m.
Panel Version: 9.6
PMID: 39292993 – reports 6 individuals from 5 unrelated consanguineous families with homozygous LOF variants and a neurodevelopmental condition. Core features of the phenotype include mild to moderate ID, seizures (onset: 3-10 months) followed by hypotonia, neuroregression and delayed myelination. Two patients presented with developmental delay without any history of regression.

EPB41L3 knockdown in mouse oligodendroglia demonstrated significant reduction in mRNA expression of key myelin genes, reduced branching and increased apoptosis.
Created: 1 May 2025, 10:37 a.m. | Last Modified: 1 May 2025, 10:37 a.m.
Panel Version: 9.5

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Developmental disorder with seizures and myelination defects

Publications

Created: 1 May 2025, 10:37 a.m.
Last Modified: 1 May 2025, 10:37 a.m.
Panel version: 9.5

Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

Green List (high evidence)

Six individuals from five unrelated families with global developmental delay, intellectual disability, seizures, hypotonia, neuroregression and delayed myelination. Exome sequencing identified biallelic variants in EPB41L3 in all affected individuals: two nonsense [c.466C>T, p.(R156*); c.2776C>T, p.(R926*)] and three frameshift [c.666delT, p.(F222Lfs*46); c.2289dupC, p.(V764Rfs*19); c.948_949delTG, p.(A317Kfs*33)].
Sources: Literature
Created: 27 Apr 2025, 3:59 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
developmental delay; intellectual disability; seizures; hypotonia; neuroregression

Publications

Created: 27 Apr 2025, 3:59 p.m.

Panel version: 8.243

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Developmental disorder with seizures and myelination defects
Tags
Q2_25_ promote_green Q2_25_ NHS_review
OMIM
605331
Clinvar variants
Variants in EPB41L3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 May 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: epb41l3 has been classified as Amber List (Moderate Evidence).

1 May 2025, Gel status: 0

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_25_ promote_green tag was added to gene: EPB41L3. Tag Q2_25_ NHS_review tag was added to gene: EPB41L3.

1 May 2025, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: EPB41L3 were changed from developmental delay; intellectual disability; seizures; hypotonia; neuroregression to Developmental disorder with seizures and myelination defects

27 Apr 2025, Gel status: 0

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

Julia Baptista (South East Genomic Laboratory Hub, Synnovis, King's College Hospital)

gene: EPB41L3 was added gene: EPB41L3 was added to Intellectual disability. 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 developmental delay; intellectual disability; seizures; hypotonia; neuroregression Review for gene: EPB41L3 was set to GREEN