Activity
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11 actions
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| Fetal anomalies v4.192 | DPF2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DPF2. Tag Q3_24_NHS_review was removed from gene: DPF2. |
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| Fetal anomalies v4.192 | DPF2 | Achchuthan Shanmugasundram edited their review of gene: DPF2: 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: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.191 | DPF2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to DPF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Fetal anomalies v4.51 | DPF2 | Achchuthan Shanmugasundram Phenotypes for gene: DPF2 were changed from Coffin-Siris syndrome 7, OMIM:618027; Coffin Siris like disorder to Coffin-Siris syndrome 7, OMIM:618027 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.50 | DPF2 |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DPF2. Tag Q3_24_NHS_review tag was added to gene: DPF2. |
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| Fetal anomalies v4.36 | DPF2 | Achchuthan Shanmugasundram commented on gene: DPF2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | DPF2 | Denise Williams reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29429572, 31706665; Phenotypes: Coffin-Siris syndrome 7, OMIM:618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | DPF2 |
Achchuthan Shanmugasundram Source NHS GMS was added to DPF2. Mode of inheritance for gene DPF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Coffin-Siris syndrome 7, OMIM:618027 for gene: DPF2 Publications for gene: DPF2 were updated from to 29429572; 31706665 |
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| Fetal anomalies v0.9 | DPF2 | Rebecca Foulger commented on gene: DPF2: DDG2P rating in original PAGE list: Probable for Coffin Siris like disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | DPF2 | Rebecca Foulger reviewed gene: DPF2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | DPF2 |
Rebecca Foulger gene: DPF2 was added gene: DPF2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: DPF2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DPF2 were set to Coffin Siris like disorder |
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