Activity
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| Fetal anomalies v4.192 | CCDC22 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CCDC22. Tag Q3_24_NHS_review was removed from gene: CCDC22. |
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| Fetal anomalies v4.192 | CCDC22 | Achchuthan Shanmugasundram edited their review of gene: CCDC22: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | CCDC22 |
Achchuthan Shanmugasundram Source NHS GMS was added to CCDC22. Source Expert Review Green was added to CCDC22. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.48 | CCDC22 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CCDC22. Tag Q3_24_NHS_review tag was added to gene: CCDC22. |
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| Fetal anomalies v4.48 | CCDC22 | Achchuthan Shanmugasundram Phenotypes for gene: CCDC22 were changed from SYNDROMIC X-LINKED INTELLECTUAL DISABILITY to Ritscher-Schinzel syndrome 2, OMIM:300963 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.47 | CCDC22 | Achchuthan Shanmugasundram Publications for gene: CCDC22 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | CCDC22 | Achchuthan Shanmugasundram commented on gene: CCDC22 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | CCDC22 | Natalie Canham reviewed gene: CCDC22: Rating: GREEN; Mode of pathogenicity: ; Publications: 24916641, 21826058, 34020006, 31971710, 33059814; Phenotypes: Ritscher-Schinzel syndrome 2, OMIM:300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | CCDC22 | Rebecca Foulger commented on gene: CCDC22: DDG2P rating in original PAGE list: Probable for SYNDROMIC X-LINKED INTELLECTUAL DISABILITY | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | CCDC22 | Rebecca Foulger reviewed gene: CCDC22: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | CCDC22 |
Rebecca Foulger gene: CCDC22 was added gene: CCDC22 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CCDC22 were set to SYNDROMIC X-LINKED INTELLECTUAL DISABILITY |
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