| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Severe early-onset obesity v2.48 | PHIP |
Ivone Leong Tag Q3_21_rating was removed from gene: PHIP. Tag Q3_21_NHS_review was removed from gene: PHIP. |
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| Severe early-onset obesity v2.48 | PHIP | Ivone Leong commented on gene: PHIP: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v2.47 | PHIP |
Ivone Leong Source Expert Review Green was added to PHIP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Severe early-onset obesity v2.40 | PHIP | Ivone Leong Tag Q3_21_rating tag was added to gene: PHIP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v2.40 | PHIP | Ivone Leong Classified gene: PHIP as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v2.40 | PHIP | Ivone Leong Added comment: Comment on list classification: New gene added by David Hunt (Wessex Clinical Genetics Service). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v2.40 | PHIP | Ivone Leong Gene: phip has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v2.39 | PHIP | Ivone Leong Tag Q3_21_NHS_review tag was added to gene: PHIP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe early-onset obesity v2.39 | PHIP |
David Hunt gene: PHIP was added gene: PHIP was added to Severe early-onset obesity. Sources: Literature Mode of inheritance for gene: PHIP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PHIP were set to 27900362; 29209020; 31167805; 32492392; 33867250 Phenotypes for gene: PHIP were set to Obesity; global developmental delay; intellectual disability; behavioral abnormality; dysmorphic facies Penetrance for gene: PHIP were set to unknown Review for gene: PHIP was set to GREEN Added comment: Multiple peer-reviewed publications reporting a high rate of childhood-onset obesity in PHIP-related neurodevelopmental disorder (a.k.a. Chung-Jansen syndrome). Sources: Literature |
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