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Ehlers Danlos syndrome with a likely monogenic cause v4.11 FBN1 Ida Ertmanska changed review comment from: Comment on mode of inheritance: There are numerous individuals with Marfan syndrome reported with both heterozygous and biallelic FBN1 variants - though biallelic cases are known to present with more severe features, and with higher disease penetrance. Hence, the MOI on Thoracic aortic aneurysm or dissection (GMS) should be changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.; to: Comment on mode of inheritance: There are numerous individuals with Marfan syndrome reported with both heterozygous and biallelic FBN1 variants - though biallelic cases are known to present with more severe features, and with higher disease penetrance. Hence, the MOI on Ehlers Danlos syndrome with a likely monogenic cause should be changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Ehlers Danlos syndrome with a likely monogenic cause v4.11 FBN1 Ida Ertmanska Phenotypes for gene: FBN1 were changed from Marfan syndrome, OMIM:154700 to Marfan syndrome, OMIM:154700; Marfan syndrome, MONDO:0007947
Ehlers Danlos syndrome with a likely monogenic cause v4.10 FBN1 Ida Ertmanska Publications for gene: FBN1 were set to
Ehlers Danlos syndrome with a likely monogenic cause v4.9 FBN1 Ida Ertmanska Tag Q2_26_MOI tag was added to gene: FBN1.
Ehlers Danlos syndrome with a likely monogenic cause v4.9 FBN1 Ida Ertmanska commented on gene: FBN1: Comment on mode of inheritance: There are numerous individuals with Marfan syndrome reported with both heterozygous and biallelic FBN1 variants - though biallelic cases are known to present with more severe features, and with higher disease penetrance. Hence, the MOI on Thoracic aortic aneurysm or dissection (GMS) should be changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
Ehlers Danlos syndrome with a likely monogenic cause v4.9 FBN1 Ida Ertmanska edited their review of gene: FBN1: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v4.9 FBN1 Ida Ertmanska reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23278365, 27582083, 31950671; Phenotypes: Marfan syndrome, OMIM:154700, Marfan syndrome, MONDO:0007947; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v2.31 FBN1 Ivone Leong Phenotypes for gene: FBN1 were changed from Marfan syndrome,154700 to Marfan syndrome, OMIM:154700
Ehlers Danlos syndrome with a likely monogenic cause v1.43 FBN1 Duncan Baker reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 FBN1 Eleanor Williams reviewed gene: FBN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 FBN1 Eleanor Williams Source NHS GMS was added to FBN1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause FBN1 Angela Brady reviewed FBN1
Ehlers Danlos syndrome with a likely monogenic cause FBN1 Neeti Ghali reviewed FBN1
Ehlers Danlos syndrome with a likely monogenic cause FBN1 Louise Daugherty reviewed FBN1