Activity
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7 actions
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| Fetal anomalies v5.78 | RAB34 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RAB34. Tag Q1_25_ promote_green was removed from gene: RAB34. |
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| Fetal anomalies v5.78 | RAB34 | Achchuthan Shanmugasundram edited their review of gene: RAB34: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | RAB34 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAB34. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | RAB34 |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RAB34. Tag Q1_25_ promote_green tag was added to gene: RAB34. |
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| Fetal anomalies v5.16 | RAB34 | Achchuthan Shanmugasundram commented on gene: RAB34 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | RAB34 | Soo-Mi Park reviewed gene: RAB34: Rating: GREEN; Mode of pathogenicity: ; Publications: 37619988, 37384395; Phenotypes: Orofaciodigital syndrome XX, MIM#620718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | RAB34 |
Achchuthan Shanmugasundram gene: RAB34 was added gene: RAB34 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAB34 were set to 37619988; 37384395 Phenotypes for gene: RAB34 were set to Orofaciodigital syndrome XX, OMIM:620718 |
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