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Severe Paediatric Disorders v0.17 | INPP5K | Louise Daugherty Mode of inheritance for gene INPP5K was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | INPP5K | Louise Daugherty reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | INPP5K | Louise Daugherty Publications for gene INPP5K were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | INPP5K | Louise Daugherty Added phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 for gene: INPP5K | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | INPP5K | Louise Daugherty Added phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 for gene: INPP5K | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | INPP5K | Louise Daugherty Added phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 for gene: INPP5K | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | INPP5K | Louise Daugherty Added phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 for gene: INPP5K | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | INPP5K | Louise Daugherty Source Next Generation Children Project was added to INPP5K. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | INPP5K |
Louise Daugherty Source Expert Review Green was added to INPP5K. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | INPP5K |
Louise Daugherty gene: INPP5K was added gene: INPP5K was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: INPP5K was set to |