Activity
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6 actions
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| Fetal anomalies v5.28 | CSTA | Achchuthan Shanmugasundram Phenotypes for gene: CSTA were changed from EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE; Peeling skin syndrome 4, OMIM:607936 to Peeling skin syndrome 4, OMIM:607936 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | CSTA | Achchuthan Shanmugasundram commented on gene: CSTA | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | CSTA | Elizabeth Scotchman reviewed gene: CSTA: Rating: RED; Mode of pathogenicity: ; Publications: 25400170, 21944047, 12890214, 22066523; Phenotypes: Peeling skin syndrome 4, MIM#607936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | CSTA |
Achchuthan Shanmugasundram Source NHS GMS was added to CSTA. Source Expert Review Red was added to CSTA. Added phenotypes Peeling skin syndrome 4, OMIM:607936 for gene: CSTA Publications for gene: CSTA were updated from to 21944047; 12890214; 25400170; 22066523 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| Fetal anomalies v0.9 | CSTA | Rebecca Foulger reviewed gene: CSTA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | CSTA |
Rebecca Foulger gene: CSTA was added gene: CSTA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CSTA were set to EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE |
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