Level 3: Liver disease
Level 2: Gastroenterological disorders
Version 1.26
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review
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BOTH monoallelic and 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, intrahepatic, of pregnancy, 3, 614972
- Cholestasis, progressive familial intrahepatic 3, 602347
- Cholestasis, Progressive Familial Intrahepatic 3
- Familial Intrahepatic Cholestasis
- Progressive Familial Intrahepatic Cholestasis
- cholelithiasis
- gallstones
- modifier in other forms of genetic cholestasis
- PFIC
- PFIC3
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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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Other
- NHS GMS
Phenotypes
- Progressive Familial Intrahepatic Cholestasis
- modifier in other forms of genetic cholestasis
- Familial Intrahepatic Cholestasis
- gallstones
- cholelithiasis
- PFIC
- PFIC3
- Cholestasis, progressive familial intrahepatic 3, 602347
- Cholestasis, intrahepatic, of pregnancy, 3, 614972
- Neonatal and Adult Cholestasis
- Cholestasis, Progressive Familial Intrahepatic 3
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Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.615
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Literature
Phenotypes
- Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport)
- Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR
- Cholestasis, progressive familial intrahepatic 3 602347 AR
- Gallbladder disease 1 600803 AD, AR
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Version 4.134
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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Gallbladder disease 1 600803 AD, AR
- Cholestasis, progressive familial intrahepatic 3 602347 AR
- Progressive familial intrahepatic cholestasis type 3 (Disorders of bile acid metabolism and transport)
- Cholestasis, intrahepatic, of pregnancy, 3 614972 AD, AR
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Version 3.74
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 1.182
|
review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Cholestasis, progressive familial intrahepatic 3, 602347
- Gallbladder disease 1, 600803
- Cholestasis, intrahepatic, of pregnancy, 3, 614972
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