| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hypophosphataemia or rickets v2.16 | ALPL | Ivone Leong Tag for-review was removed from gene: ALPL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.16 | ALPL | Ivone Leong commented on gene: ALPL: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.15 | ALPL |
Ivone Leong Source Expert Review Green was added to ALPL. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Hypophosphataemia or rickets v2.12 | ALPL | Ivone Leong Tag for-review tag was added to gene: ALPL. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.12 | ALPL | Ivone Leong Classified gene: ALPL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.12 | ALPL | Ivone Leong Added comment: Comment on list classification: This gene is associated with an appropriate phenotype in OMIM and Gene2Phenotype and there is enough evidence to support a gene-disease association. However, phosphate levels in the blood is normal for this phenotype. After consultation with the Genomics England Clinical Team, I have given this gene an Amber gene rating and tagged with "for-review" so that GMS experts can consider this gene in the scope of testing for the next iteration. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.12 | ALPL | Ivone Leong Gene: alpl has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.11 | ALPL | Ivone Leong Phenotypes for gene: ALPL were changed from Hypophosphatasia, infantile, 241500; Hypophosphatasia, childhood, 241500 to Hypophosphatasia, infantile, OMIM:241500, MONDO:0009427; Hypophosphatasia, childhood, OMIM:241500, MONDO:0009428 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.7 | ALPL | Ivone Leong Phenotypes for gene: ALPL were changed from Hypophosphatasia, infantile, MIM# 241500 to Hypophosphatasia, infantile, 241500; Hypophosphatasia, childhood, 241500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypophosphataemia or rickets v2.5 | ALPL |
Zornitza Stark gene: ALPL was added gene: ALPL was added to Hypophosphataemia or rickets. Sources: Expert list Mode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALPL were set to Hypophosphatasia, infantile, MIM# 241500 Review for gene: ALPL was set to GREEN Added comment: Fractures, poor mineralisation, rachitic rosary. Sources: Expert list |
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