Ehlers Danlos syndromes

Gene: EFEMP1

No list

EFEMP1 (EGF containing fibulin extracellular matrix protein 1)
EnsemblGeneIds (GRCh38): ENSG00000115380
EnsemblGeneIds (GRCh37): ENSG00000115380
OMIM: 601548, Gene2Phenotype
EFEMP1 is in 4 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

PMID 33807164: third unrelated family reported, single affected individual with bi-alllelic LoF variant, cutis laxa and multiple herniations.
Created: 10 May 2021, 10:08 a.m. | Last Modified: 10 May 2021, 10:08 a.m.
Panel Version: 2.57
Monoallelic variants in this gene are associated with a retinal dystrophy. New publications linking bi-allelic variants to a connective tissue disease phenotype:

PMID 31792352 reports one individual with a pronounced connective tissue phenotype presenting multiple and recurrent abdominal and thoracic herniae, myopia, hypermobile joints, scoliosis, and thin translucent skin. This individual has no clinical signs of retinal dystrophy.

PMID 32006683 reports 2 homozygous siblings (consanguinous) with multiple and recurrent herniae, pelvic and rectal prolapse, huge diverticula, marfanoid habitus, joint laxity, dorsal scoliosis, advanced bone age, pectus excavatum, dysmorphic facial features, and myopia.

Both papers mention that studies on EFEMP1−/− mice revealed a phenotypic resemblance.
Sources: Literature
Created: 3 Jun 2020, 10:51 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Connective tissue disorder

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
Phenotypes
  • Connective tissue disorder
OMIM
601548
Clinvar variants
Variants in EFEMP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jun 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: EFEMP1 was added gene: EFEMP1 was added to Ehlers Danlos syndromes. Sources: Literature Mode of inheritance for gene: EFEMP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFEMP1 were set to 32006683; 31792352 Phenotypes for gene: EFEMP1 were set to Connective tissue disorder Review for gene: EFEMP1 was set to AMBER