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Severe Paediatric Disorders v0.12 PMPCA Louise Daugherty reviewed gene: PMPCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe Paediatric Disorders v0.11 PMPCA Louise Daugherty Publications for gene PMPCA were updated from to 30847515
Severe Paediatric Disorders v0.11 PMPCA Louise Daugherty Mode of inheritance for gene PMPCA was changed from to BIALLELIC, autosomal or pseudoautosomal
Severe Paediatric Disorders v0.10 PMPCA Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 2, 213200 for gene: PMPCA
Severe Paediatric Disorders v0.9 PMPCA Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 2, 213200 for gene: PMPCA
Severe Paediatric Disorders v0.9 PMPCA Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 2, 213200 for gene: PMPCA
Severe Paediatric Disorders v0.8 PMPCA Louise Daugherty Added phenotypes Spinocerebellar ataxia, autosomal recessive 2, 213200 for gene: PMPCA
Severe Paediatric Disorders v0.7 PMPCA Louise Daugherty Source Next Generation Children Project was added to PMPCA.
Severe Paediatric Disorders v0.5 PMPCA Louise Daugherty Source Expert Review Green was added to PMPCA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Severe Paediatric Disorders v0.4 PMPCA Louise Daugherty gene: PMPCA was added
gene: PMPCA was added to Severe Paediatric Disorders. Sources: Expert list
Mode of inheritance for gene: PMPCA was set to