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Ehlers Danlos syndrome with a likely monogenic cause v2.68 COL3A1 Mafalda Gomes Tag Q3_22_MOI was removed from gene: COL3A1.
Tag Q3_22_expert_review was removed from gene: COL3A1.
Ehlers Danlos syndrome with a likely monogenic cause v2.68 COL3A1 Achchuthan Shanmugasundram commented on gene: COL3A1
Ehlers Danlos syndrome with a likely monogenic cause v2.67 COL3A1 Mafalda Gomes Mode of inheritance for gene COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Ehlers Danlos syndrome with a likely monogenic cause v2.66 COL3A1 Eleanor Williams Tag Q3_22_expert_review tag was added to gene: COL3A1.
Ehlers Danlos syndrome with a likely monogenic cause v2.66 COL3A1 Eleanor Williams changed review comment from: Comment on mode of inheritance: Biallelic variants are associated with Polymicrogyria with or without vascular-type EDS OMIM:618343, therefore the mode of inheritance should be changes to Both mono and biallelic following GMS review.; to: Comment on mode of inheritance: Biallelic variants are associated with Polymicrogyria with or without vascular-type EDS OMIM:618343, therefore the mode of inheritance should be changed to Both mono and biallelic following GMS review.
Ehlers Danlos syndrome with a likely monogenic cause v2.66 COL3A1 Eleanor Williams Added comment: Comment on mode of inheritance: Biallelic variants are associated with Polymicrogyria with or without vascular-type EDS OMIM:618343, therefore the mode of inheritance should be changes to Both mono and biallelic following GMS review.
Ehlers Danlos syndrome with a likely monogenic cause v2.66 COL3A1 Eleanor Williams Mode of inheritance for gene: COL3A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Ehlers Danlos syndrome with a likely monogenic cause v2.65 COL3A1 Eleanor Williams Tag Q3_22_MOI tag was added to gene: COL3A1.
Ehlers Danlos syndrome with a likely monogenic cause v2.21 COL3A1 Ivone Leong Added comment: Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, type IV, 130050;Vascular EDS;vEDS;Ehlers-Danlos Syndrome, Vascular Type;Sack-Barabas syndrome
Ehlers Danlos syndrome with a likely monogenic cause v2.21 COL3A1 Ivone Leong Phenotypes for gene: COL3A1 were changed from Ehlers Danlos syndrome, type IV, 130050; Vascular EDS; vEDS; Ehlers-Danlos Syndrome, Vascular Type; Sack-Barabas syndrome to Ehlers-Danlos syndrome, vascular type, OMIM:130050
Ehlers Danlos syndrome with a likely monogenic cause v1.43 COL3A1 Duncan Baker reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.42 COL3A1 Eleanor Williams reviewed gene: COL3A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Ehlers Danlos syndrome with a likely monogenic cause v1.41 COL3A1 Eleanor Williams Source NHS GMS was added to COL3A1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Ehlers Danlos syndrome with a likely monogenic cause COL3A1 Angela Brady reviewed COL3A1
Ehlers Danlos syndrome with a likely monogenic cause COL3A1 Neeti Ghali reviewed COL3A1
Ehlers Danlos syndrome with a likely monogenic cause COL3A1 Louise Daugherty commented on COL3A1
Ehlers Danlos syndrome with a likely monogenic cause COL3A1 Louise Daugherty edited their review of COL3A1
Ehlers Danlos syndrome with a likely monogenic cause COL3A1 Louise Daugherty commented on COL3A1