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
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- Neonatal and Adult Cholestasis
- Cholestasis, benign recurrent intrahepatic, 2, 605479
- Cholestasis, progressive familial intrahepatic 2, 601847
- Cholestasis, Progressive Familial Intrahepatic 2
- Familial Intrahepatic Cholestasis
- PFIC2
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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
- Familial Intrahepatic Cholestasis
- Cholestasis, progressive familial intrahepatic 2, 601847
- Cholestasis, Progressive Familial Intrahepatic 2
- PFIC2
- Cholestasis, benign recurrent intrahepatic, 2, 605479
- Neonatal and Adult Cholestasis
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.617
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport)
- Cholestasis, benign recurrent intrahepatic, 2 605479
- Cholestasis, progressive familial intrahepatic 2 601847
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Version 4.137
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
Unexplained death in infancy and sudden unexplained death in childhood
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Progressive familial intrahepatic cholestasis type 2 (Disorders of bile acid metabolism and transport)
- Cholestasis, benign recurrent intrahepatic, 2 605479
- Cholestasis, progressive familial intrahepatic 2 601847
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Version 3.155
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 Red
- PAGE DD-Gene2Phenotype
Phenotypes
- ABCB11-RELATED INTRAHEPATIC CHOLESTASIS
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- ABCB11-RELATED INTRAHEPATIC CHOLESTASIS 601847
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.531
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Cholestasis, progressive familial intrahepatic 2, 601847
- Cholestasis, benign recurrent intrahepatic, 2, 605479
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Version 3.75
Latest signed off version: v3.0
(22 Mar 2023)
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review
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Not set
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Sources
- Expert Review Red
- London North GLH
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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
- Cholestasis, progressive familial intrahepatic 2, 601847
- Cholestasis, benign recurrent intrahepatic, 2, 605479
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