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| Mitochondrial disease v0.1122 | PTRH2 | Zornitza Stark Marked gene: PTRH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1122 | PTRH2 | Zornitza Stark Gene: ptrh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1122 | PTRH2 | Zornitza Stark Publications for gene: PTRH2 were set to 29884839; 37239392 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1121 | PTRH2 |
Zornitza Stark changed review comment from: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy. More than 5 unrelated families reported. The Q85P missense variant is reported in several families, likely founder effect.; to: Infantile-onset multisystem neurologic, endocrine, and pancreatic disease-1 (IMNEPD1) is an autosomal recessive multisystemic disorder with variable expressivity. The core features usually include global developmental delay with impaired intellectual development and speech delay, ataxia, sensorineural hearing loss, and pancreatic insufficiency. Additional features may include peripheral neuropathy, postnatal microcephaly, dysmorphic facial features, and cerebellar atrophy. More than 5 unrelated families reported. The Q85P missense variant is reported in several families, likely founder effect. Protein is involved in mitochondrial translation. |
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| Mitochondrial disease v0.1121 | Zornitza Stark Added reviews for gene PTRH2 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.923 | PTRH2 |
Bryony Thompson gene: PTRH2 was added gene: PTRH2 was added to Mitochondrial disease. Sources: Expert Review Green Mode of inheritance for gene: PTRH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTRH2 were set to 29884839; 37239392 Phenotypes for gene: PTRH2 were set to Miscellaneous disorders associated with mitochondrial dysfunction; neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:8000012 |
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