| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Aortopathy_Connective Tissue Disorders v0.40 | BGN | Zornitza Stark Marked gene: BGN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.40 | BGN | Zornitza Stark Added comment: Comment when marking as ready: Females variably affected. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.40 | BGN | Zornitza Stark Gene: bgn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.40 | BGN | Zornitza Stark Marked gene: BGN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.40 | BGN | Zornitza Stark Gene: bgn has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.40 | BGN | Zornitza Stark Mode of inheritance for gene: BGN was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.39 | BGN | Zornitza Stark Publications for gene: BGN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.38 | BGN | Zornitza Stark Phenotypes for gene: BGN were changed from to Meester-Loeys syndrome, MIM# 300989 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.29 | BGN |
Belinda Chong changed review comment from: 5 unrelated individuals with TAAD (PMID:27632686) plus mouse model (PMID:17502576) PMID:27632686 Proband associated with syndromic TAAD: c.5G>A, p.Trp2*, 21 kb del: chrX:152767424-152787984 28 kb del: chrX:152768438-152795976, c.908A>C, p.Gln303Pro, c.238G>A, p.Gly80Ser. Some segregation evidence and mutation-carrying females ranged from unaffected upon repeated echocardiographic evaluation over aortic root dilatation to death due to aortic dissection. PMID:17502576 Biglycan deficiency in male BALB/cA mice has been shown to lead to sudden death due to aortic rupture. GEL PanelApp: As per evidence above. ClinGen assessment uncertain due to focuses on isolated TAAD; however support involvement of BGN in syndromic TAAD: "Strong for syndromic , X-linked TAAD and “limited” for isolated TAAD. The curation shows strong assertion with syndromic TAAD. There was 1 reported proband with isolated TAAD harboring variant in this gene. Given this, the association with isolated TAAD should be limited."; to: 5 unrelated individuals with TAAD (PMID:27632686) plus mouse model (PMID:17502576) PMID:27632686 Proband associated with syndromic TAAD: c.5G>A, p.Trp2*, 21 kb del: chrX:152767424-152787984 28 kb del: chrX:152768438-152795976, c.908A>C, p.Gln303Pro, c.238G>A, p.Gly80Ser. Some segregation evidence and mutation-carrying females ranged from unaffected upon repeated echocardiographic evaluation over aortic root dilatation to death due to aortic dissection. PMID:17502576 Biglycan deficiency in male BALB/cA mice has been shown to lead to sudden death due to aortic rupture. GEL PanelApp: As per evidence above. ClinGen assessment uncertain due to focus on isolated TAAD; however support involvement of BGN in syndromic TAAD: "Strong for syndromic , X-linked TAAD and “limited” for isolated TAAD. The curation shows strong assertion with syndromic TAAD. There was 1 reported proband with isolated TAAD harboring variant in this gene. Given this, the association with isolated TAAD should be limited." |
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| Aortopathy_Connective Tissue Disorders v0.26 | BGN | Belinda Chong reviewed gene: BGN: Rating: GREEN; Mode of pathogenicity: None; Publications: 30071989, 27632686, 17502576; Phenotypes: Heritable Thoracic Aortic Aneurysm and Dissection; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Aortopathy_Connective Tissue Disorders v0.0 | BGN |
Zornitza Stark gene: BGN was added gene: BGN was added to Aortopathy, Connective tissue disorder_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: BGN was set to Unknown |
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