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| Cholestasis v0.212 | USP53 | Zornitza Stark Publications for gene: USP53 were set to 30250217; 32124521 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.211 | USP53 |
Zornitza Stark changed review comment from: 8 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient in 7 families, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years). In another family, one individual required liver transplantation. Three individuals from two families had deafness. Sources: Literature; to: 12 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient in 7 families, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 15 years). In another family, one individual required liver transplantation. Three individuals from two families had deafness. Sources: Literature |
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| Cholestasis v0.211 | USP53 | Zornitza Stark edited their review of gene: USP53: Changed publications: 30250217, 32124521, 33075013 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.211 | USP53 | Zornitza Stark Phenotypes for gene: USP53 were changed from Cholestasis; deafness to Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.210 | USP53 | Zornitza Stark edited their review of gene: USP53: Changed phenotypes: Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss, MIM# 619658 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.13 | USP53 | Zornitza Stark Marked gene: USP53 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.13 | USP53 | Zornitza Stark Gene: usp53 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.13 | USP53 | Zornitza Stark Classified gene: USP53 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.13 | USP53 | Zornitza Stark Gene: usp53 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.12 | USP53 |
Zornitza Stark gene: USP53 was added gene: USP53 was added to Cholestasis. Sources: Literature Mode of inheritance for gene: USP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP53 were set to 30250217; 32124521 Phenotypes for gene: USP53 were set to Cholestasis; deafness Review for gene: USP53 was set to GREEN Added comment: 8 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient in 7 families, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years). In another family, one individual required liver transplantation. Three individuals from two families had deafness. Sources: Literature |
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