| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Microcephaly v1.222 | PIP5K1C | Elena Savva Publications for gene: PIP5K1C were set to 37451268 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.222 | PIP5K1C | Elena Savva Publications for gene: PIP5K1C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.220 | PIP5K1C | Zornitza Stark Marked gene: PIP5K1C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.220 | PIP5K1C | Zornitza Stark Gene: pip5k1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.220 | PIP5K1C | Zornitza Stark Phenotypes for gene: PIP5K1C were changed from Neurodevelopmental disorder and microcephaly to Neurodevelopmental disorder and microcephaly, MONDO:0700092, PIP5K1C-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.214 | PIP5K1C | Chirag Patel Classified gene: PIP5K1C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.214 | PIP5K1C | Chirag Patel Gene: pip5k1c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Microcephaly v1.213 | PIP5K1C |
Chirag Patel gene: PIP5K1C was added gene: PIP5K1C was added to Microcephaly. Sources: Other Mode of inheritance for gene: PIP5K1C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PIP5K1C were set to Neurodevelopmental disorder and microcephaly Review for gene: PIP5K1C was set to GREEN gene: PIP5K1C was marked as current diagnostic Added comment: ESHG 2023: 9 unrelated patients with de novo missense variants in PIP5K1C (3 x recurrent variants). Presentation with DD/ID (mod-profound), microcephaly, seizures, visual impairment, and dysmorphism. PIP5K1C is one of the phosphoinositolides, which control membrane composition of organelles and varying cellular processes. Patient fibroblasts showed increased PI(4,5)P2 levels, altered PI(4,5)P2 composition of early endosomes, and impaired endocytosis trafficking. Drosophila models showed microcephaly and ocular phenotype. Sources: Other |
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