| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Congenital adrenal hypoplasia v2.9 | POLE | Ivone Leong Tag for-review was removed from gene: POLE. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v2.9 | POLE | Ivone Leong commented on gene: POLE: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v2.8 | POLE |
Ivone Leong Source Expert Review Green was added to POLE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Congenital adrenal hypoplasia v2.6 | POLE | Ivone Leong Classified gene: POLE as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v2.6 | POLE | Ivone Leong Gene: pole has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Congenital adrenal hypoplasia v2.5 | POLE |
Ivone Leong gene: POLE was added gene: POLE was added to Congenital adrenal hypoplasia. Sources: Expert Review for-review tags were added to gene: POLE. Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to 14760276; 30503519 Phenotypes for gene: POLE were set to IMAGE-I syndrome, OMIM:618336 Review for gene: POLE was set to GREEN Added comment: This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There are >3 unrelated cases and therefore, enough evidence to support a gene-disease association. This gene should be Green at the next review. This gene was also proposed to be added and given Green status by Soo-Mi Park (East Anglian Medical Genetics Service). Sources: Expert Review |
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