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Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Victorian Clinical Genetics Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Neonatal and Adult Cholestasis
- Cholestasis, progressive familial intrahepatic 5, 617049
- Cholestasis, Progressive Familial Intrahepatic 5
- modifier of other genetic cholestatic conditions
- ciliopathy
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Version 3.4
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Other
- NHS GMS
Phenotypes
- ciliopathy
- Cholestasis, Progressive Familial Intrahepatic 5
- modifier of other genetic cholestatic conditions
- Neonatal and Adult Cholestasis
- Cholestasis, progressive familial intrahepatic 5, 617049
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Version 1.184
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Cholestasis, progressive familial intrahepatic, 5, 617049
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