Intellectual disability
Gene: ELFN1

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

1 review

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: 2 Sep 2025, 10:58 a.m. | Last Modified: 2 Sep 2025, 10:58 a.m.

Panel Version: 9.68

Total of 14 individuals from 7 unrelated families with biallelic loss of function variants in ELFN1 and a neurodevelopmental disorder comprising DD/ID ranging from moderate to severe (13/13) and epilepsy (12/13). Other features included dysmorphic features, behavioural disturbances, ADHD, ASD, hypotonia, muscle weakness, ataxia. Knockout and haploinsufficiency studies in mice resulted in detectable phenotypes compatible with ELFN1 deficiency disorder.
Sources: Literature
Created: 2 Sep 2025, 10:46 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Neurodevelopmental disorder, MONDO:0700092

Publications

Created: 2 Sep 2025, 10:46 a.m.

Panel version: 9.67

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
Literature

Phenotypes

Neurodevelopmental disorder, MONDO:0700092

Tags

Q3_25_promote_green

OMIM

614964

Clinvar variants

Variants in ELFN1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Sep 2025, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: elfn1 has been classified as Amber List (Moderate Evidence).

2 Sep 2025, Gel status: 1

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

Arina Puzriakova (Genomics England Curator)

gene: ELFN1 was added gene: ELFN1 was added to Intellectual disability. Sources: Literature Q3_25_promote_green tags were added to gene: ELFN1. Mode of inheritance for gene: ELFN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELFN1 were set to 40576023; 34509675; 34452636 Phenotypes for gene: ELFN1 were set to Neurodevelopmental disorder, MONDO:0700092 Review for gene: ELFN1 was set to GREEN

Intellectual disability Gene: ELFN1