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Severe Paediatric Disorders v0.12 | UFC1 | Louise Daugherty reviewed gene: UFC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | UFC1 | Louise Daugherty Publications for gene UFC1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | UFC1 | Louise Daugherty Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | UFC1 | Louise Daugherty Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | UFC1 | Louise Daugherty Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | UFC1 | Louise Daugherty Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | UFC1 |
Louise Daugherty Mode of inheritance for gene UFC1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1 |
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Severe Paediatric Disorders v0.7 | UFC1 | Louise Daugherty Source Next Generation Children Project was added to UFC1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | UFC1 |
Louise Daugherty Source Expert Review Green was added to UFC1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | UFC1 |
Louise Daugherty gene: UFC1 was added gene: UFC1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: UFC1 was set to |