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Retinal disorders

Gene: EGFLAM

Amber List (moderate evidence)
EGFLAM (EGF like, fibronectin type III and laminin G domains)
EnsemblGeneIds (GRCh38): ENSG00000164318
EnsemblGeneIds (GRCh37): ENSG00000164318
OMIM: 617683, Gene2Phenotype
EGFLAM is in 1 panel

2 reviews

Ida Ertmanska (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As reviewed by Siying Lin, there are 3 individuals from 2 unrelated families reported with biallelic EGFLAM variants and Congenital stationary night blindness. In addition, a knockout mouse model supports the gene's association with a retinal phenotype. Based on available evidence, this gene should be promoted to Green for Retinal disorders.
Created: 19 Dec 2025, 9:18 a.m. | Last Modified: 19 Dec 2025, 9:18 a.m.
Panel Version: 8.75
PMID: 41343198 Boranijasevic et al., 2025
3 patients from 2 unrelated families of Moroccan ancestry. Identified 2 different homozygous pathogenic variants in EGFLAM c.1563_1566del, p.(Val522Glufs*18) and c.1795C>T, p.(Arg599*). Method: exome/genome seq.

Functional evidence: PMID: 18641643 Sato et al., 2008 - Pikachurin is a protein encoded by EGFLAM. Pikachurin-null mice exhibited reduced visual function (particularly spacial resolution). The knockout mice lacked dendritic tips of bipolar cells in the photoreceptor ribbon synapse - clear link to retinal function.

EGFLAM is not yet associated with any phenotype in OMIM (accessed 19th Dec 2025).
Created: 19 Dec 2025, 9:16 a.m. | Last Modified: 19 Dec 2025, 9:16 a.m.
Panel Version: 8.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital stationary night blindness, HP:0007642

Publications

Created: 19 Dec 2025, 9:16 a.m.
Last Modified: 19 Dec 2025, 9:16 a.m.
Panel version: 8.75

Siying Lin (Moorfields Eye Hospital)

I don't know

PMID 41343198 - 3 patients from 2 unrelated families with different homozygous LOF variants and CSNB phenotype
Sources: Literature
Created: 5 Dec 2025, 10:26 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital Stationary Night Blindness

Publications

Mode of pathogenicity
Other

Created: 5 Dec 2025, 10:26 p.m.

Panel version: 8.74

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital stationary night blindness, HP:0007642
Tags
Q4_25_promote_green Q4_25_NHS_review
OMIM
617683
Clinvar variants
Variants in EGFLAM
Penetrance
None
Publications
Mode of Pathogenicity
Other
Panels with this gene

History Filter Activity

19 Dec 2025, Gel status: 2

Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Phenotypes for gene: EGFLAM were changed from Congenital Stationary Night Blindness to Congenital stationary night blindness, HP:0007642

19 Dec 2025, Gel status: 2

Set publications

Ida Ertmanska (Genomics England Curator)

Publications for gene: EGFLAM were set to PMID: 41343198

19 Dec 2025, Gel status: 2

Entity classified by Genomics England curator

Ida Ertmanska (Genomics England Curator)

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

19 Dec 2025, Gel status: 0

Added Tag, Added Tag

Ida Ertmanska (Genomics England Curator)

Tag Q4_25_promote_green tag was added to gene: EGFLAM. Tag Q4_25_NHS_review tag was added to gene: EGFLAM.

5 Dec 2025, Gel status: 0

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

Siying Lin (Moorfields Eye Hospital)

gene: EGFLAM was added gene: EGFLAM was added to Retinal disorders. Sources: Literature Mode of inheritance for gene: EGFLAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EGFLAM were set to PMID: 41343198 Phenotypes for gene: EGFLAM were set to Congenital Stationary Night Blindness Mode of pathogenicity for gene: EGFLAM was set to Other Review for gene: EGFLAM was set to AMBER