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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. |
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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 |
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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) |
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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 |