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| Chromosome Breakage Disorders v0.172 | PNKP | Zornitza Stark Marked gene: PNKP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v0.172 | PNKP | Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v0.172 | PNKP | Zornitza Stark Classified gene: PNKP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v0.172 | PNKP | Zornitza Stark Gene: pnkp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Chromosome Breakage Disorders v0.171 | PNKP |
Zornitza Stark gene: PNKP was added gene: PNKP was added to Chromosome Breakage Disorders. Sources: Expert Review Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PNKP were set to 20118933; 25728773 Phenotypes for gene: PNKP were set to Ataxia-oculomotor apraxia 4, MIM# 616267; Microcephaly, seizures, and developmental delay, MIM# 613402 Review for gene: PNKP was set to GREEN Added comment: Enzyme involved in DNA repair. Ataxia-oculomotor apraxia 4, MIM# 616267 typically has onset in first decade, whereas Microcephaly, seizures, and developmental delay, MIM# 613402 is congenital. Sources: Expert Review |
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