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| Deafness_IsolatedAndComplex v1.108 | USP53 | Zornitza Stark Marked gene: USP53 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.108 | USP53 | Zornitza Stark Gene: usp53 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.108 | USP53 | Zornitza Stark Classified gene: USP53 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.108 | USP53 | Zornitza Stark Gene: usp53 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.107 | USP53 |
Zornitza Stark changed review comment from: 12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years). Deafness reported in two families, childhood onset. Sources: Expert Review; to: 12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 15 years). Deafness reported in two families, childhood onset. Sources: Expert Review |
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| Deafness_IsolatedAndComplex v1.107 | USP53 |
Zornitza Stark gene: USP53 was added gene: USP53 was added to Deafness_IsolatedAndComplex. Sources: Expert Review Mode of inheritance for gene: USP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP53 were set to 30250217; 32124521; 33075013 Phenotypes for gene: USP53 were set to Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658 Review for gene: USP53 was set to AMBER Added comment: 12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years). Deafness reported in two families, childhood onset. Sources: Expert Review |
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