Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PHF21A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PHF21A. Tag Q3_24_NHS_review was removed from gene: PHF21A. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.192 | PHF21A | Achchuthan Shanmugasundram edited their review of gene: PHF21A: 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 | PHF21A |
Achchuthan Shanmugasundram Source Expert Review Green was added to PHF21A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.81 | PHF21A | Achchuthan Shanmugasundram Phenotypes for gene: PHF21A were changed from POTOCKI-SHAFFER SYNDROME; Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725 to Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.80 | PHF21A |
Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PHF21A. Tag Q3_24_NHS_review tag was added to gene: PHF21A. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.36 | PHF21A | Achchuthan Shanmugasundram commented on gene: PHF21A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.35 | PHF21A | Anna de Burca reviewed gene: PHF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: 31649809, 30487643, 22770980; Phenotypes: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIM# 618725; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v4.34 | PHF21A |
Achchuthan Shanmugasundram Source NHS GMS was added to PHF21A. Mode of inheritance for gene PHF21A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725 for gene: PHF21A Publications for gene: PHF21A were updated from to 31649809; 30487643; 22770980 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.9 | PHF21A | Rebecca Foulger reviewed gene: PHF21A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | PHF21A |
Rebecca Foulger gene: PHF21A was added gene: PHF21A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: PHF21A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PHF21A were set to POTOCKI-SHAFFER SYNDROME |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||