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Syndromic Retinopathy v0.227 | PANK2 | Zornitza Stark Marked gene: PANK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Syndromic Retinopathy v0.227 | PANK2 | Zornitza Stark Gene: pank2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Syndromic Retinopathy v0.227 | PANK2 | Zornitza Stark Phenotypes for gene: PANK2 were changed from HARP syndrome; Neurodegeneration with brain iron accumulation 1 to pantothenate kinase-associated neurodegeneration MONDO:0009319 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Syndromic Retinopathy v0.226 | PANK2 | Zornitza Stark Publications for gene: PANK2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Syndromic Retinopathy v0.223 | PANK2 | Sangavi Sivagnanasundram reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11479594, 15911822, 1734303; Phenotypes: pantothenate kinase-associated neurodegeneration MONDO:0009319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Syndromic Retinopathy v0.0 | PANK2 |
Bryony Thompson gene: PANK2 was added gene: PANK2 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PANK2 were set to HARP syndrome; Neurodegeneration with brain iron accumulation 1 |