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
- Emory Genetics Laboratory
Phenotypes
- Neonatal and Adult Cholestasis
- Bile acid synthesis defect, congenital, 2
- Bile acid synthesis defect, congenital, 2 235555
- bile salt synthesis defect
- cholestasis
- fat soluble vitamin deficiency
- liver failure
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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
- Victorian Clinical Genetics Services
- UKGTN
- Emory Genetics Laboratory
Phenotypes
- Bile acid synthesis defect, congenital, 2 235555
- fat soluble vitamin deficiency
- liver failure
- bile salt synthesis defect
- Bile acid synthesis defect, congenital, 2
- Neonatal and Adult Cholestasis
- 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
- ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis)
- Bile acid synthesis defect, congenital, 2 235555
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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
- ?4-3-oxysterol 5?-reductase deficiency (Disorders of bile acid biosynthesis)
- Bile acid synthesis defect, congenital, 2 235555
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
|
review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- DD-Gene2Phenotype
- Expert Review Green
Phenotypes
- BILE ACID SYNTHESIS DEFECT, CONGENITAL, 2 235555
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.12
Latest signed off version: v6.0
(1 May 2024)
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 Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Bile acid synthesis defect, congenital, 2, 235555
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
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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
- Bile acid synthesis defect, congenital, 2, 235555
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