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Intellectual disability

Gene: EPB41L1

Amber List (moderate evidence)

EPB41L1 (erythrocyte membrane protein band 4.1 like 1)
EnsemblGeneIds (GRCh38): ENSG00000088367
EnsemblGeneIds (GRCh37): ENSG00000088367
OMIM: 602879, Gene2Phenotype
EPB41L1 is in 2 panels

4 reviews

Konstantinos Varvagiannis (Other)

I don't know

Hamdan et al. (PMID: 21376300) reported on a boy with ID and a de novo EPB41L1 variant. The authors performed functional studies to show that the protein encoded by this gene (4.1N), when mutated, presents reduced binding (by 50%) to the AMPA Receptor subunit GluR1 in transfected HEK293 cells. Insertion of the GluR1 at the synaptic membrane was significantly decreased in transfected hippocampal neurons producing the mutant protein, compared to wild-type. The proband had the Pro854Ser (NM_012156.2:c.2560C>T) variant. Concerning the specific variant ClinVar cites 2 further articles on the role of 4.1N on AMPARs (PMIDs : 19503082, 11050113).

ClinVar has a single further submission of a likely pathogenic variant p.Arg638Cys (NM_001258329.1:c.1912C>T) associated with abnormality of brain morphology. This entry cites a publication from the submitter (Karaca et al. - PMID: 26539891). In the supplement of this article the variant appears to be associated with frontotemporal dementia (considered as expansion of the phenotype).

In denovo-db there appear to be 2 patients with de novo variants, with the phenotype of ASD and SCZ respectively. The patient with ASD was published in the context of a larger ASD cohort by Krumm et al. (PMID: 25961944). This individual (13771.p1) had a further de novo SNV in KIAA1009 and was reported to have a full-scale IQ of 83 (supplement).

There appears to be no other relevant patient reported in the literature.

There are no relevant patients in Decipher (SNVs or small CNVs).

In OMIM this gene is associated with ?Mental retardation, autosomal dominant 11 (MIM 614257) based on the article by Hamdan et al.

EPB41L1 is still a possible DD gene in G2P associated with intellectual disability.

The gene is included in gene panels for ID offered by diagnostic laboratories (incl. Radboudumc).

As a result this gene should probably remain amber.
Created: 20 Dec 2018, 8:39 a.m.

Publications

Variants in this GENE are reported as part of current diagnostic practice

Caroline Wright (Sanger)

Red List (low evidence)

Ellen McDonagh (Genomics England Curator)

I don't know

A heterozygous missense variant was reported in PMID 21376300. This is a possible DD gene for ID in Gene2Phenotype. This gene is included in the 20q11.2 microdeletion reported in PMID: 25572454, along with other genes, and disruption of this gene was suggsted to underly the ID in these patients.
Created: 27 Oct 2017, 2:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
?Mental retardation, autosomal dominant 11 614257

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • ?Mental retardation, autosomal dominant 11 614257
Tags
watchlist
OMIM
602879
Clinvar variants
Variants in EPB41L1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Sep 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to EPB41L1.

12 Mar 2018, Gel status: 2

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 2

Added New Source, Set mode of inheritance, Set publications

Ellen McDonagh (Genomics England Curator)

Expert Review Amber was added to EPB41L1. Panel: Intellectual disability Model of inheritance for gene EPB41L1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene EPB41L1 was set to ['21376300', '25572454']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EPB41L1 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

EPB41L1 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen