Activity
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| Ataxia and cerebellar anomalies - narrow panel v8.30 | PTRH2 | Achchuthan Shanmugasundram Classified gene: PTRH2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.30 | PTRH2 | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are at least five unrelated families with IMNEPD presented with ataxia as part of the phenotype. Hence, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS update. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.30 | PTRH2 | Achchuthan Shanmugasundram Gene: ptrh2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.29 | PTRH2 | Achchuthan Shanmugasundram Tag Q3_25_promote_green tag was added to gene: PTRH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.29 | PTRH2 | Achchuthan Shanmugasundram Phenotypes for gene: PTRH2 were changed from Infantile-onset multisystem neurologic, endocrine, and pancreatic disease to Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263; neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.28 | PTRH2 | Achchuthan Shanmugasundram Publications for gene: PTRH2 were set to 25574476; 28328138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v8.27 | PTRH2 | Achchuthan Shanmugasundram reviewed gene: PTRH2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25574476, 25558065, 27129381, 31057140; Phenotypes: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263, neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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