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
- Emory Genetics Laboratory
Phenotypes
- Neonatal and Adult Cholestasis
- Neonatal sclerosis cholangitis
- PFIC type 5
- Sclerosing cholangitis, neonatal, 617394
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Version 3.4
Latest signed off version: v3.0
(22 Mar 2023)
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review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Other
- NHS GMS
- Victorian Clinical Genetics Services
- Emory Genetics Laboratory
Phenotypes
- Sclerosing cholangitis, neonatal, 617394
- PFIC type 5
- Neonatal sclerosis cholangitis
- Neonatal and Adult Cholestasis
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Version 3.3
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Renal superpanel - broad
Renal superpanel - narrow
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- NHS GMS
- Expert Review Amber
Phenotypes
- Sclerosing cholangitis, neonatal MIM 617394
- ?Deafness, autosomal recessive 66 MIM 610212
- Nephronopthisis 19 MIM 616217
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Version 3.155
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 Amber
- PAGE DD-Gene2Phenotype
Phenotypes
|
Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- RENAL-HEPATIC CILIOPATHY 616217
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Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 1.170
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Orphanet
- Radboud University Medical Center, Nijmegen
- Expert list
Phenotypes
- Nephronophthisis 19, 616217
- Neonatal sclerosing cholangitis
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Level 3: Congenital malformations caused by ciliopathies
Level 2: Ciliopathies
Version 3.5
Latest signed off version: v3.0
(22 Mar 2023)
Component of the following Super Panels:
Cystic renal disease
Paediatric disorders
Rare multisystem ciliopathy Super panel
Renal superpanel - broad
Renal superpanel - narrow
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Amber
- Orphanet
- Expert list
- Radboud University Medical Center, Nijmegen
Phenotypes
- Neonatal sclerosing cholangitis
- Nephronophthisis 19, 616217
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Version 3.75
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
Not set
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Sources
- Expert Review Red
- London North GLH
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Version 1.184
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- ?Deafness, autosomal recessive 66, 610212
- Sclerosing cholangitis, neonatal, 617394
- Nephronophthisis 19, 616217
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