Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.5
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Other
Phenotypes
- Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626
- scarring alopecia
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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
- UKGTN
- Emory Genetics Laboratory
Phenotypes
- Neonatal and Adult Cholestasis
- Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis, 607626
- ichthyosis-hypotrichosis-sclerosing cholangitis
- NISCH syndrome
- Neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome
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Version 3.28
Latest signed off version: v3.2
(22 Mar 2023)
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review
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BIALLELIC, autosomal or pseudoautosomal
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Sources
Phenotypes
- Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, OMIM:607626
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Version 3.29
Latest signed off version: v3.0
(22 Mar 2023)
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
Phenotypes
- Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626
- scarring alopecia
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Version 3.4
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Other
- NHS GMS
Phenotypes
- ichthyosis-hypotrichosis-sclerosing cholangitis
- Ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis, 607626
- Neonatal and Adult Cholestasis
- NISCH syndrome
- Neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome
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Version 3.25
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BIALLELIC, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Neonatal ichthyosis-sclerosing cholangitis syndrome
Tags
- Q1_24_demote_red
- Q1_24_expert_review
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Version 1.184
|
review
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BIALLELIC, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626
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