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Intellectual disability

Gene: ELFN1

Green List (high 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

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 12 Mar 2026, 1:33 p.m. | Last Modified: 12 Mar 2026, 1:33 p.m.
Panel Version: 9.299
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: 9.299

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Literature
Phenotypes
  • Neurodevelopmental disorder, MONDO:0700092
OMIM
614964
Clinvar variants
Variants in ELFN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Mar 2026, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: ELFN1.

12 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to ELFN1. Source Expert Review Green was added to ELFN1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

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