EFEMP1 Chromosome 2
EGF-like fibulin extracellular matrix protein 1
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What This Gene Does
This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]
Gene Info
Gene Group
Fibulins
Locus Type
gene with protein product
Location
2p16.1
Ensembl
ENSG00000115380
Associated Conditions (17)
Doyne honeycomb retinal dystrophy
Retinal dystrophy
EFEMP1-related disorder
Inborn genetic diseases
Glaucoma 1
open angle
H
Glaucoma of childhood
Blindness
Night blindness
Macular dystrophy
Retinal pigment epithelial atrophy
Optic disc drusen
14 conditions
Cutis laxa
autosomal recessive
type 1d
Key Variants
RS1208704909
Conflicting classifications of pathogenicity
Doyne honeycomb retinal dystrophy, Doyne honeycomb retinal dystrophy
Health Risk
RS142572513
Conflicting classifications of pathogenicity
Doyne honeycomb retinal dystrophy, Doyne honeycomb retinal dystrophy
Health Risk
RS151171192
Conflicting classifications of pathogenicity
Doyne honeycomb retinal dystrophy, Doyne honeycomb retinal dystrophy
Health Risk
RS200959130
Conflicting classifications of pathogenicity
Retinal dystrophy, Retinal dystrophy
Health Risk
RS374690853
Conflicting classifications of pathogenicity
Doyne honeycomb retinal dystrophy, Doyne honeycomb retinal dystrophy
Health Risk
RS55849640
Conflicting classifications of pathogenicity
Doyne honeycomb retinal dystrophy, EFEMP1-related disorder, Doyne honeycomb retinal dystrophy
Health Risk
RS746396165
Conflicting classifications of pathogenicity
Doyne honeycomb retinal dystrophy, Doyne honeycomb retinal dystrophy
Health Risk
RS748310171
Conflicting classifications of pathogenicity
Doyne honeycomb retinal dystrophy, Inborn genetic diseases, Doyne honeycomb retinal dystrophy
Health Risk
RS752091023
Conflicting classifications of pathogenicity
EFEMP1-related disorder, EFEMP1-related disorder
Health Risk
RS756065296
Conflicting classifications of pathogenicity
Retinal dystrophy, Glaucoma 1, open angle
Health Risk
RS1448130623
Likely pathogenic
Glaucoma of childhood, Glaucoma of childhood
Health Risk
RS1553348960
Likely pathogenic
Blindness, Night blindness, Macular dystrophy
Health Risk
All Variants (22)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1208704909 | Health Risk | Conflicting classifications of pathogenicity | Doyne honeycomb retinal dystrophy, Doyne honeycomb retinal dystrophy |
| RS142572513 | Health Risk | Conflicting classifications of pathogenicity | Doyne honeycomb retinal dystrophy, Doyne honeycomb retinal dystrophy |
| RS151171192 | Health Risk | Conflicting classifications of pathogenicity | Doyne honeycomb retinal dystrophy, Doyne honeycomb retinal dystrophy |
| RS200959130 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Retinal dystrophy |
| RS374690853 | Health Risk | Conflicting classifications of pathogenicity | Doyne honeycomb retinal dystrophy, Doyne honeycomb retinal dystrophy |
| RS55849640 | Health Risk | Conflicting classifications of pathogenicity | Doyne honeycomb retinal dystrophy, EFEMP1-related disorder, Doyne honeycomb retinal dystrophy |
| RS746396165 | Health Risk | Conflicting classifications of pathogenicity | Doyne honeycomb retinal dystrophy, Doyne honeycomb retinal dystrophy |
| RS748310171 | Health Risk | Conflicting classifications of pathogenicity | Doyne honeycomb retinal dystrophy, Inborn genetic diseases, Doyne honeycomb retinal dystrophy |
| RS752091023 | Health Risk | Conflicting classifications of pathogenicity | EFEMP1-related disorder, EFEMP1-related disorder |
| RS756065296 | Health Risk | Conflicting classifications of pathogenicity | Retinal dystrophy, Glaucoma 1, open angle |
| RS1448130623 | Health Risk | Likely pathogenic | Glaucoma of childhood, Glaucoma of childhood |
| RS1553348960 | Health Risk | Likely pathogenic | Blindness, Night blindness, Macular dystrophy |
| RS1572850869 | Health Risk | Pathogenic | 14 conditions, Cutis laxa, autosomal recessive |
| RS1670770987 | Health Risk | Pathogenic | — |
| RS2104360072 | Health Risk | Pathogenic | Glaucoma of childhood, Glaucoma 1, open angle |
| RS2104369155 | Health Risk | Pathogenic | Cutis laxa, autosomal recessive, type 1d |
| RS2104392010 | Health Risk | Pathogenic | — |
| RS2104452781 | Health Risk | Pathogenic | Glaucoma of childhood, Glaucoma 1, open angle |
| RS2465752553 | Health Risk | Pathogenic | — |
| RS765517862 | Health Risk | Pathogenic | 14 conditions, Cutis laxa, autosomal recessive |
| RS121434491 | Health Risk | Pathogenic/Likely pathogenic | Doyne honeycomb retinal dystrophy, Retinal dystrophy, Doyne honeycomb retinal dystrophy |
| RS2465744658 | Health Risk | Pathogenic/Likely pathogenic | EFEMP1-related disorder, EFEMP1-related disorder |