1. Panels
  2. Fetal anomalies
  3. ELFN1
Genes in panel
Prev Next

Fetal anomalies

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 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Beth Young (West Midlands Regional Genetics Laboratory)

Red List (low evidence)

Red on DDG2P, Amber on Early onset or syndromic epilepsy and ID panels, with notes to say to be promoted to green in Q3_25. Dore et al. 2025; 8 individulas from five unrelated families with varying degrees of dev delay, epilepsy and movement disorders. No consistent antenatal features were noted. Dursun et al. 2021; 3 siblings with developmental and epileptic encephalopathy. Rasheed et al. 2021; variant identified in family with ID, speech delay and cognition defect. No reports of prenatal phenotype.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Dursun-Ozgul neurodevelopmental syndrome, OMIM:621344

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Dursun-Ozgul neurodevelopmental syndrome, OMIM:621344
OMIM
614964
Clinvar variants
Variants in ELFN1
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Dursun-Ozgul neurodevelopmental syndrome, OMIM:621344 for gene: ELFN1

9 Mar 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: ELFN1 was added gene: ELFN1 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal