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| Skeletal dysplasia v1.25 | POLR3A |
chirag patel gene: POLR3A was added gene: POLR3A was added to Skeletal dysplasia. Sources: Literature Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLR3A were set to 30414627, 30450527, 30323018, 21671373, 10607952 Phenotypes for gene: POLR3A were set to Wiedemann-Rautenstrauch syndrome, MONDO:0009910 Review for gene: POLR3A was set to GREEN Added comment: Multiple families reported with biallelic variants in POLR3A and Wiedemann-Rautenstrauch syndrome (WDRTS). This is a rare autosomal recessive neonatal progeroid disorder characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, generalized lipoatrophy, various skeletal anomalies, hypotonia, and variable mental impairment. Sources: Literature |
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| Skeletal dysplasia v1.0 | OAT | Gene migrated from ENSG00000065154 to ENSG00000065154 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | OAT |
Zornitza Stark gene: OAT was added gene: OAT was added to Skeletal dysplasia. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: OAT was set to Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia 258870 |
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