1. Panels
  2. DDG2P
  3. EPB41L3
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

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 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for EPB41L3-related developmental disorder with delayed myelination and seizures are moderate, biallelic_autosomal and loss of function (PMID:39292993). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03579.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease EPB41L3-related developmental disorder with delayed myelination and seizures is moderate. The allelic requirement and mutation consequence are biallelic_autosomal and decreased gene product level (PMID: 39292993).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0100038; EPB41L3-related developmental disorder with delayed myelination and seizures

Publications

Mode of pathogenicity
Other

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • EPB41L3-related developmental disorder with delayed myelination and seizures
Tags
gene-checked
OMIM
605331
Clinvar variants
Variants in EPB41L3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: EPB41L3 was changed from Other to None

12 Mar 2025, Gel status: 3

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag gene-checked tag was added to gene: EPB41L3.

21 Feb 2025, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: EPB41L3 was added gene: EPB41L3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype 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 EPB41L3-related developmental disorder with delayed myelination and seizures Mode of pathogenicity for gene: EPB41L3 was set to Other