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Cytopenia - NOT Fanconi anaemia v0.136 | AP3B1 |
Louise Daugherty Source Expert Review Amber was added to AP3B1. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
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Cytopenia - NOT Fanconi anaemia v0.135 | AP3B1 | Louise Daugherty reviewed gene: AP3B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.134 | AP3B1 | Louise Daugherty Source Expert review Amber was added to AP3B1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cytopenia - NOT Fanconi anaemia v0.133 | AP3B1 |
Louise Daugherty Mode of inheritance for gene AP3B1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hermansky-Pudlak syndrome 2, 608233 for gene: AP3B1 |
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Cytopenia - NOT Fanconi anaemia v0.132 | AP3B1 |
Louise Daugherty gene: AP3B1 was added gene: AP3B1 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: AP3B1 was set to |