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| Ataxia - paediatric v0.170 | PTRH2 | Zornitza Stark Marked gene: PTRH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.170 | PTRH2 | Zornitza Stark Gene: ptrh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.170 | PTRH2 | Zornitza Stark Publications for gene: PTRH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.169 | PTRH2 | Zornitza Stark reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25558065, 25574476, 31057140, 27129381; Phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, MIM# 616263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.0 | PTRH2 |
Bryony Thompson gene: PTRH2 was added gene: PTRH2 was added to Ataxia - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PTRH2 were set to Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263 |
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