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Chromosome Breakage Disorders v1.2 SPRTN Zornitza Stark Marked gene: SPRTN as ready
Chromosome Breakage Disorders v1.2 SPRTN Zornitza Stark Gene: sprtn has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.2 SPRTN Zornitza Stark Classified gene: SPRTN as Green List (high evidence)
Chromosome Breakage Disorders v1.2 SPRTN Zornitza Stark Gene: sprtn has been classified as Green List (High Evidence).
Chromosome Breakage Disorders v1.1 SPRTN Zornitza Stark gene: SPRTN was added
gene: SPRTN was added to Chromosome Breakage Disorders. Sources: Expert Review
Mode of inheritance for gene: SPRTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRTN were set to 25261934
Phenotypes for gene: SPRTN were set to Ruijs-Aalfs syndrome, MIM# 616200; MONDO:0014527
Review for gene: SPRTN was set to GREEN
Added comment: Two families with functional evidence for a DNA repair disorder; progeroid features and hepatocellular carcinoma reported as key features.
Sources: Expert Review