Activity
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7 actions
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| Fetal anomalies v5.78 | ZFX |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ZFX. Tag Q1_25_ promote_green was removed from gene: ZFX. |
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| Fetal anomalies v5.78 | ZFX | Achchuthan Shanmugasundram edited their review of gene: ZFX: 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, monoallelic mutations in females may cause disease (may be less severe, later onset than males) in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.77 | ZFX |
Achchuthan Shanmugasundram Source Expert Review Green was added to ZFX. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v5.74 | ZFX |
Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ZFX. Tag Q1_25_ promote_green tag was added to gene: ZFX. |
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| Fetal anomalies v5.16 | ZFX | Achchuthan Shanmugasundram commented on gene: ZFX | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | ZFX | Vicki Harrison reviewed gene: ZFX: Rating: GREEN; Mode of pathogenicity: ; Publications: 38325380; Phenotypes: Intellectual developmental disorder, X-linked syndromic 37, MIM#301118; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | ZFX |
Achchuthan Shanmugasundram gene: ZFX was added gene: ZFX was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ZFX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: ZFX were set to 38325380 Phenotypes for gene: ZFX were set to Intellectual developmental disorder, X-linked syndromic 37, OMIM:301118 |
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