| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aortopathy_Connective Tissue Disorders v0.131 | EFEMP2 | Zornitza Stark Marked gene: EFEMP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.131 | EFEMP2 | Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.131 | EFEMP2 | Zornitza Stark Phenotypes for gene: EFEMP2 were changed from to Cutis laxa, autosomal recessive, type IB MIM# 614437 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.130 | EFEMP2 | Zornitza Stark Classified gene: EFEMP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.130 | EFEMP2 | Zornitza Stark Gene: efemp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.129 | EFEMP2 | Paul De Fazio edited their review of gene: EFEMP2: Changed phenotypes: Cutis laxa, autosomal recessive, type IB MIM# 614437 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.129 | EFEMP2 |
Paul De Fazio gene: EFEMP2 was added gene: EFEMP2 was added to Aortopathy_Connective Tissue Disorders. Sources: Literature Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFEMP2 were set to 20389311; 19664000; 16685658; 17937443; 22943132; 22440127 Review for gene: EFEMP2 was set to GREEN gene: EFEMP2 was marked as current diagnostic Added comment: Associated with cutis laxa in at least 6 unrelated individuals (PMID: 20389311; 19664000; 16685658; 17937443). PMID: 22943132 reports 22 homozygous or compound het infants with: cardiovascular features included aneurysmal dilatation, elongation, tortuosity and narrowing of the aorta, pulmonary artery and their branches. The phenotype included a variable combination of cutis laxa (52%), long philtrum-thin vermillion (90%), micrognathia (43%), hypertelorism (57%), prominent eyes (43%), sagging cheeks (43%), long slender digits (48%), and visible arterial pulsations (38%). Has also been associated with aortic dissection without presentation of cutis laxa (PMID: 22440127 - reports 9 affected individuals). Sources: Literature |
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| Aortopathy_Connective Tissue Disorders v0.30 | SMAD4 |
Paul De Fazio changed review comment from: "Limited evidence" for association with aortic dilatation/dissection by ClinGen: "Eight genes scored as moderate (EFEMP2) or limited (ELN, FBN2, FLNA, NOTCH1, SLC2A10, SMAD4, and SKI) for association with HTAAD. These genes are a heterogeneous group for which the evidence was often difficult to assess...the evidence, therefore, for their association with a presentation of aortic dilatation and/or dissection is often rather lacking. The other common feature of these conditions is that there is no robust evidence of progression to aortic dissection." The ClinGen review of SMAD4, viewable in the supplementary material, dates to 22/12/2016 and so does not account for the reported individuals in PMID 30809044. Green in PanelApp UK although with quite a few Amber reviews. There is an association between people with with SMAD4 variants and aortic dissection (PMID 25931195).; to: "Limited evidence" for association with aortic dilatation/dissection by ClinGen: "Eight genes scored as moderate (EFEMP2) or limited (ELN, FBN2, FLNA, NOTCH1, SLC2A10, SMAD4, and SKI) for association with HTAAD. These genes are a heterogeneous group for which the evidence was often difficult to assess...the evidence, therefore, for their association with a presentation of aortic dilatation and/or dissection is often rather lacking. The other common feature of these conditions is that there is no robust evidence of progression to aortic dissection." Green in PanelApp UK although with quite a few Amber reviews. There is an association between people with with SMAD4 variants and aortic dissection (PMID 25931195). The ClinGen review of SMAD4, viewable in the supplementary material, dates to 22/12/2016 and so does not account for the reported individuals in PMID 30809044. Given this more recent data Green is appropriate. |
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| Aortopathy_Connective Tissue Disorders v0.26 | SMAD4 |
Paul De Fazio changed review comment from: "Limited evidence" for association with aortic dilatation/dissection by ClinGen: "Eight genes scored as moderate (EFEMP2) or limited (ELN, FBN2, FLNA, NOTCH1, SLC2A10, SMAD4, and SKI) for association with HTAAD. These genes are a heterogeneous group for which the evidence was often difficult to assess...the evidence, therefore, for their association with a presentation of aortic dilatation and/or dissection is often rather lacking. The other common feature of these conditions is that there is no robust evidence of progression to aortic dissection." The ClinGen review of SMAD4, viewable in the supplementary material, dates to 22/12/2016 and does not account for the reported individuals cited below.; to: "Limited evidence" for association with aortic dilatation/dissection by ClinGen: "Eight genes scored as moderate (EFEMP2) or limited (ELN, FBN2, FLNA, NOTCH1, SLC2A10, SMAD4, and SKI) for association with HTAAD. These genes are a heterogeneous group for which the evidence was often difficult to assess...the evidence, therefore, for their association with a presentation of aortic dilatation and/or dissection is often rather lacking. The other common feature of these conditions is that there is no robust evidence of progression to aortic dissection." The ClinGen review of SMAD4, viewable in the supplementary material, dates to 22/12/2016 and so does not account for the reported individuals in PMID 30809044. Green in PanelApp UK although with quite a few Amber reviews. There is an association between people with with SMAD4 variants and aortic dissection (PMID 25931195). |
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| Aortopathy_Connective Tissue Disorders v0.26 | SMAD4 |
Paul De Fazio changed review comment from: "Limited evidence" for association with aortic dilatation/dissection by ClinGen: "Eight genes scored as moderate (EFEMP2) or limited (ELN, FBN2, FLNA, NOTCH1, SLC2A10, SMAD4, and SKI) for association with HTAAD. These genes are a heterogeneous group for which the evidence was often difficult to assess...the evidence, therefore, for their association with a presentation of aortic dilatation and/or dissection is often rather lacking. The other common feature of these conditions is that there is no robust evidence of progression to aortic dissection."; to: "Limited evidence" for association with aortic dilatation/dissection by ClinGen: "Eight genes scored as moderate (EFEMP2) or limited (ELN, FBN2, FLNA, NOTCH1, SLC2A10, SMAD4, and SKI) for association with HTAAD. These genes are a heterogeneous group for which the evidence was often difficult to assess...the evidence, therefore, for their association with a presentation of aortic dilatation and/or dissection is often rather lacking. The other common feature of these conditions is that there is no robust evidence of progression to aortic dissection." The ClinGen review of SMAD4, viewable in the supplementary material, dates to 22/12/2016 and does not account for the reported individuals cited below. |
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