1. Panels
  2. DDG2P
  3. ELFN1
Genes in panel
Prev Next
STRs in panel
Prev Next
Regions in panel
Prev Next

DDG2P

Gene: ELFN1

Red List (low evidence)
ELFN1 (extracellular leucine rich repeat and fibronectin type III domain containing 1)
EnsemblGeneIds (GRCh38): ENSG00000225968
EnsemblGeneIds (GRCh37): ENSG00000225968
OMIM: 614964, Gene2Phenotype
ELFN1 is in 3 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is sufficient evidence to support this gene disease association, however, the content of this panel reflects genes and classifications assigned by Gene2Phenotype on their DDG2P panel. 'ELFN1-related intellectual disability and epilepsy' is currently classified as 'limited' (https://www.ebi.ac.uk/gene2phenotype/gene/ELFN1) which maps to the PanelApp rating of Red - therefore this rating will be maintained on this panel. This gene has been added to other GMS panels with a green recommendation (ID and epilepsy) to capture the evidence and ensure inclusion of ELFN1 in the NHS GMS.
Created: 2 Sep 2025, 11:05 a.m. | Last Modified: 2 Sep 2025, 11:05 a.m.
Panel Version: 6.2
Created: 2 Sep 2025, 11:05 a.m.
Last Modified: 2 Sep 2025, 11:05 a.m.
Panel version: 6.2

Rhys Dore (Guy's and St Thomas' NHS Foundation Trust)

Green List (high evidence)

8 new individuals from 5 unrelated families with biallelic loss of function variants in ELFN1 with a neurodevelopmental disorder and epilepsy. Thus, this provides a total of 14 individuals from 7 unrelated families.
Created: 28 Jul 2025, 12:49 p.m. | Last Modified: 28 Jul 2025, 12:49 p.m.
Panel Version: 6.1

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intellectual disability; developmental delay; epilepsy

Publications

Mode of pathogenicity
Other

Created: 28 Jul 2025, 12:49 p.m.
Last Modified: 28 Jul 2025, 12:49 p.m.
Panel version: 6.1

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category for the disease ELFN1-related intellectual disability and epilepsy is limited. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID:34509675).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
ELFN1-related intellectual disability and epilepsy

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • DD-Gene2Phenotype
Phenotypes
  • ELFN1-related intellectual disability and epilepsy
OMIM
614964
Clinvar variants
Variants in ELFN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Sep 2025, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ELFN1 were set to 34509675

2 Sep 2025, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: elfn1 has been classified as Red List (Low Evidence).

4 Oct 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ELFN1 was added gene: ELFN1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELFN1 were set to 34509675 Phenotypes for gene: ELFN1 were set to ELFN1-related intellectual disability and epilepsy