Activity
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12 actions
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| Fetal anomalies v4.192 | AFF3 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AFF3. Tag Q3_24_NHS_review was removed from gene: AFF3. |
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| Fetal anomalies v4.192 | AFF3 | Achchuthan Shanmugasundram edited their review of gene: AFF3: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | AFF3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AFF3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.38 | AFF3 | Achchuthan Shanmugasundram Phenotypes for gene: AFF3 were changed from KINSSHIP syndrome, OMIM:619297 to KINSSHIP syndrome, OMIM:619297 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.37 | AFF3 | Achchuthan Shanmugasundram Phenotypes for gene: AFF3 were changed from KINSSHIP syndrome, OMIM:619297; Skeletal dysplasia with severe neurological disease to KINSSHIP syndrome, OMIM:619297 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | AFF3 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: AFF3. Tag Q3_24_NHS_review tag was added to gene: AFF3. |
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| Fetal anomalies v4.36 | AFF3 | Achchuthan Shanmugasundram commented on gene: AFF3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | AFF3 | Esther Kinning reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, OMIM:619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | AFF3 |
Achchuthan Shanmugasundram Source NHS GMS was added to AFF3. Mode of inheritance for gene AFF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes KINSSHIP syndrome, OMIM:619297 for gene: AFF3 Publications for gene: AFF3 were updated from to 31388108; 33961779 |
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| Fetal anomalies v0.9 | AFF3 | Rebecca Foulger commented on gene: AFF3: DDG2P rating in original PAGE list: Probable for Skeletal dysplasia with severe neurological disease | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | AFF3 | Rebecca Foulger reviewed gene: AFF3: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | AFF3 |
Rebecca Foulger gene: AFF3 was added gene: AFF3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AFF3 were set to Skeletal dysplasia with severe neurological disease |
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