Activity
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13 actions
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| Combined vitamin K-dependent clotting factor deficiency v1.3 | VKORC1 | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #607473) and the OMIM record was last accessed on 17 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined vitamin K-dependent clotting factor deficiency v1.3 | VKORC1 | Achchuthan Shanmugasundram Phenotypes for gene: VKORC1 were changed from to Vitamin K-dependent clotting factors, combined deficiency of, type 2, OMIM:607473; vitamin K-dependent clotting factors, combined deficiency of, type 2, MONDO:0011837 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined vitamin K-dependent clotting factor deficiency v1.2 | GGCX | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #277450) and the OMIM record was last accessed on 17 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined vitamin K-dependent clotting factor deficiency v1.2 | GGCX | Achchuthan Shanmugasundram Phenotypes for gene: GGCX were changed from to Vitamin K-dependent clotting factors, combined deficiency of, 1, OMIM:277450; vitamin K-dependent clotting factors, combined deficiency of, type 1, MONDO:0010187 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined vitamin K-dependent clotting factor deficiency v1.1 | Achchuthan Shanmugasundram Panel version 1.0 has been signed off on 2023-09-14 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined vitamin K-dependent clotting factor deficiency v1.0 | Achchuthan Shanmugasundram promoted panel to version 1.0 | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined vitamin K-dependent clotting factor deficiency v0.3 | Achchuthan Shanmugasundram Panel types changed to GMS Rare Disease; GMS signed-off | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined vitamin K-dependent clotting factor deficiency v0.2 | Achchuthan Shanmugasundram Panel status changed from internal to public | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined vitamin K-dependent clotting factor deficiency v0.1 | VKORC1 | Achchuthan Shanmugasundram reviewed gene: VKORC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined vitamin K-dependent clotting factor deficiency v0.1 | GGCX | Achchuthan Shanmugasundram reviewed gene: GGCX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined vitamin K-dependent clotting factor deficiency v0.1 | VKORC1 |
Achchuthan Shanmugasundram gene: VKORC1 was added gene: VKORC1 was added to Combined vitamin K-dependent clotting factor deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal |
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| Combined vitamin K-dependent clotting factor deficiency v0.1 | GGCX |
Achchuthan Shanmugasundram gene: GGCX was added gene: GGCX was added to Combined vitamin K-dependent clotting factor deficiency. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal |
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| Combined vitamin K-dependent clotting factor deficiency v0.0 |
Achchuthan Shanmugasundram Added Panel Combined vitamin K-dependent clotting factor deficiency Set list of related panels to R123 Set panel types to: GMS Rare Disease |
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