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Severe Paediatric Disorders v0.12 POLA1 Louise Daugherty reviewed gene: POLA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 POLA1 Louise Daugherty Publications for gene POLA1 were updated from to 30847515
Severe Paediatric Disorders v0.11 POLA1 Louise Daugherty Mode of inheritance for gene POLA1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Severe Paediatric Disorders v0.10 POLA1 Louise Daugherty Added phenotypes Van Esch-O'Driscoll syndrome, 301030; Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 for gene: POLA1
Severe Paediatric Disorders v0.9 POLA1 Louise Daugherty Added phenotypes Van Esch-O'Driscoll syndrome, 301030; Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 for gene: POLA1
Severe Paediatric Disorders v0.9 POLA1 Louise Daugherty Added phenotypes Van Esch-O'Driscoll syndrome, 301030; Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220 for gene: POLA1
Severe Paediatric Disorders v0.8 POLA1 Louise Daugherty Added phenotypes Pigmentary disorder, reticulate, with systemic manifestations, X-linked, 301220; Van Esch-O'Driscoll syndrome, 301030 for gene: POLA1
Severe Paediatric Disorders v0.7 POLA1 Louise Daugherty Source Next Generation Children Project was added to POLA1.
Severe Paediatric Disorders v0.5 POLA1 Louise Daugherty Source Expert Review Green was added to POLA1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 POLA1 Louise Daugherty gene: POLA1 was added
gene: POLA1 was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: POLA1 was set to