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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 4, 615878
- Cholestasis, Progressive Familial Intrahepatic 4
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Version 3.4
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Other
- NHS GMS
Phenotypes
- Cholestasis, Progressive Familial Intrahepatic 4
- Neonatal and Adult Cholestasis
- Cholestasis, progressive familial intrahepatic 4, 615878
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.39
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Red
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- hearing loss
- Nonsyndromic Hearing Loss, Dominant
- Cholestasis, progressive familial intrahepatic 4, 615878
- Hypercholanemia, familial, 607748
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Hypercholanemia, familial, 607748
- Cholestasis, progressive familial intrahepatic 4, 615878
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