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Severe Paediatric Disorders v0.12 | PCYT1A | Louise Daugherty reviewed gene: PCYT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PCYT1A | Louise Daugherty Publications for gene PCYT1A were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PCYT1A | Louise Daugherty Mode of inheritance for gene PCYT1A was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | PCYT1A | Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 for gene: PCYT1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PCYT1A | Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 for gene: PCYT1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PCYT1A | Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 for gene: PCYT1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | PCYT1A | Louise Daugherty Added phenotypes Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 for gene: PCYT1A | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | PCYT1A | Louise Daugherty Source Next Generation Children Project was added to PCYT1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | PCYT1A |
Louise Daugherty Source Expert Review Green was added to PCYT1A. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | PCYT1A |
Louise Daugherty gene: PCYT1A was added gene: PCYT1A was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PCYT1A was set to |