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| Ehlers Danlos syndrome with a likely monogenic cause v3.11 | EFEMP1 | Sarah Leigh edited their review of gene: EFEMP1: Added comment: Monoallelic EFEMP1 variants have been associated with Doyne honeycomb degeneration of retina (OMIM:126600). PMIDs 31792352; 32006683; 33807164 report four recessive EFEMP1 variants in three cases with a pronounced connective tissue disorder. PMID: 31792352 also describes a Efemp1 knockout mouse model, with a phenotype that matches the human cases.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v3.11 | EFEMP1 | Sarah Leigh Tag Q1_24_promote_green tag was added to gene: EFEMP1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v3.11 | EFEMP1 | Sarah Leigh Classified gene: EFEMP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v3.11 | EFEMP1 | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v3.11 | EFEMP1 | Sarah Leigh Gene: efemp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v3.10 | EFEMP1 | Sarah Leigh Publications for gene: EFEMP1 were set to 32006683; 31792352 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v2.57 | EFEMP1 | Zornitza Stark edited their review of gene: EFEMP1: Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v2.57 | EFEMP1 | Zornitza Stark edited their review of gene: EFEMP1: Added comment: PMID 33807164: third unrelated family reported, single affected individual with bi-alllelic LoF variant, cutis laxa and multiple herniations.; Changed rating: GREEN; Changed publications to: 32006683, 31792352, 33807164 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ehlers Danlos syndrome with a likely monogenic cause v2.4 | EFEMP1 |
Zornitza Stark 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 Added comment: 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 |
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