Activity
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| Fetal anomalies v5.41 | INPP5K | Achchuthan Shanmugasundram Phenotypes for gene: INPP5K were changed from Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404; Muscular dystrophy, congenital, with cataracts and intellectual disability to Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.16 | INPP5K | Achchuthan Shanmugasundram commented on gene: INPP5K | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.15 | INPP5K | Natalie Canham reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: ; Publications: 33193651, 31630891, 28940338, 28190459, 28190456; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability, MIM#617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v5.13 | INPP5K |
Achchuthan Shanmugasundram Source NHS GMS was added to INPP5K. Added phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404 for gene: INPP5K Publications for gene: INPP5K were updated from to 28190456; 33193651; 28940338; 28190459; 31630891 |
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| Fetal anomalies v0.9 | INPP5K | Rebecca Foulger commented on gene: INPP5K: DDG2P rating in original PAGE list: Probable for Muscular dystrophy, congenital, with cataracts and intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3 | INPP5K | Rebecca Foulger reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1 | INPP5K |
Rebecca Foulger gene: INPP5K was added gene: INPP5K was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability |
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