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| Ataxia and cerebellar anomalies - narrow panel v2.0 | PTRH2 | Louise Daugherty reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.0 | PTRH2 | Ellen Thomas edited their review of gene: PTRH2: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.0 | PTRH2 |
Ellen Thomas gene: PTRH2 was added gene: PTRH2 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Other Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTRH2 were set to 25574476; 28328138 Phenotypes for gene: PTRH2 were set to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease Added comment: Currently on adult ataxia panel; more suitable for childhood onset panel Sources: Other |
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