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| Aortopathy_Connective Tissue Disorders v1.84 | EFEMP1 | Zornitza Stark Phenotypes for gene: EFEMP1 were changed from EFEMP1-related connective tissue disorder; cutis laxa to Cutis laxa, autosomal recessive, type ID, MIM# 620780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.83 | EFEMP1 | Zornitza Stark edited their review of gene: EFEMP1: Changed phenotypes: Cutis laxa, autosomal recessive, type ID, MIM# 620780 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.27 | EFEMP1 | Zornitza Stark Phenotypes for gene: EFEMP1 were changed from EFEMP1-related connective tissue disorder to EFEMP1-related connective tissue disorder; cutis laxa | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.26 | EFEMP1 | Zornitza Stark Publications for gene: EFEMP1 were set to 32006683; 31792352 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.25 | EFEMP1 | Zornitza Stark Classified gene: EFEMP1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.25 | EFEMP1 | Zornitza Stark Gene: efemp1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v1.24 | EFEMP1 | Zornitza Stark reviewed gene: EFEMP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33807164; Phenotypes: EFEMP1-related connective tissue disorder, cutis laxa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.25 | EFEMP1 | Zornitza Stark Marked gene: EFEMP1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.25 | EFEMP1 | Zornitza Stark Gene: efemp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.25 | EFEMP1 | Zornitza Stark Classified gene: EFEMP1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.25 | EFEMP1 | Zornitza Stark Gene: efemp1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.24 | EFEMP1 |
Michelle Torres gene: EFEMP1 was added gene: EFEMP1 was added to Aortopathy_Connective Tissue Disorders. 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 EFEMP1-related connective tissue disorder Review for gene: EFEMP1 was set to AMBER Added comment: New gene-disease association for EFEMP1: truncating variants (absent in gnomAD): PMID 31792352 reports one man 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 were homozygous for a truncating in VCPKMT, with no gene-disease association in OMIM, not in Panel App. Both papers mention that studies on EFEMP1−/− mice revealed a phenotypic resemblance. Sources: Literature |
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