Activity
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| Embryonal tumour of possible germline origin v0.7 | ISCA-37401-Loss | Achchuthan Shanmugasundram commented on Region: ISCA-37401-Loss: This region has been added to the panel for the clinical indication 'R456 Embryonal tumour of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Embryonal tumour of possible germline origin v0.5 | ISCA-37401-Loss | Achchuthan Shanmugasundram Phenotypes for Region: ISCA-37401-Loss were changed from Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072 to Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072; WAGR syndrome, MONDO:0008681 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Embryonal tumour of possible germline origin v0.4 | ISCA-37401-Loss | Achchuthan Shanmugasundram edited their review of Region: ISCA-37401-Loss: Changed rating: GREEN; Changed phenotypes to: Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072, WAGR syndrome, MONDO:0008681; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Embryonal tumour of possible germline origin v0.4 | ISCA-37401-Loss | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: The OMIM record (MIM #194072) was last accessed on 30 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Embryonal tumour of possible germline origin v0.4 | ISCA-37401-Loss | Achchuthan Shanmugasundram Phenotypes for Region: ISCA-37401-Loss were changed from Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; 194072 to Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Embryonal tumour of possible germline origin v0.3 | ISCA-37401-Loss | Achchuthan Shanmugasundram Entity copied from Childhood solid tumours v5.8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Embryonal tumour of possible germline origin v0.3 | ISCA-37401-Loss |
Achchuthan Shanmugasundram Region: ISCA-37401-Loss was added Region: ISCA-37401-Loss was added to Embryonal tumour of possible germline origin. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-37401-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for Region: ISCA-37401-Loss were set to Wilms tumor, aniridia, genitourinary anomalies and mental retardation syndrome; 194072 |
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