Activity
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| Fetal anomalies v5.78 | ZRSR2 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ZRSR2. Tag Q1_25_ promote_green was removed from gene: ZRSR2. |
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| Fetal anomalies v5.78 | ZRSR2 | Achchuthan Shanmugasundram edited their review of gene: ZRSR2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females 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 v5.77 | ZRSR2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZRSR2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | ZRSR2 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ZRSR2. Tag Q1_25_ promote_green tag was added to gene: ZRSR2. |
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| Fetal anomalies v5.16 | ZRSR2 | Achchuthan Shanmugasundram commented on gene: ZRSR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | ZRSR2 | Vicki Harrison reviewed gene: ZRSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38158857; Phenotypes: Orofaciodigital syndrome, MONDO:0015375, ZRSR2-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | ZRSR2 |
Achchuthan Shanmugasundram gene: ZRSR2 was added gene: ZRSR2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: ZRSR2 were set to 38158857 Phenotypes for gene: ZRSR2 were set to Orofaciodigital syndrome XXI, OMIM:301132 |
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