Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31
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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
Phenotypes
- Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952
Tags
- promoter
- curated-variant-list
- non-coding-known-pathogenic
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Level 2: Viral research
Version 1.142
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
- North West GLH
- Expert Review Green
- North West GLH
- NHS GMS
- London North GLH
Phenotypes
- Proteasome-associated autoinflammatory syndrome 2, 618048
- CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
- combined immunodeficiency with autoinflammation
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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
- Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952
Tags
- promoter
- non-coding-known-pathogenic
- Q1_24_promote_green
- Q1_24_expert_review
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Version 3.25
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
- London North GLH
- NHS GMS
Phenotypes
- Keratosis linearis with ichthyosis congenita and sclerosing keratoderma, OMIM:601952
Tags
- Q1_24_demote_red
- Q1_24_expert_review
- promoter
- non-coding-known-pathogenic
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Version 5.3
Latest signed off version: v5.0
(1 May 2024)
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review
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MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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Sources
- Expert Review Green
- North West GLH
- NHS GMS
- London North GLH
Phenotypes
- Proteasome-associated autoinflammatory syndrome 2, OMIM:618048
- CANDLE syndrome (Autoinflammation, lipodystrophy, and dermatosis syndrome)
- Combined immunodeficiency with autoinflammation
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Version 4.3
Latest signed off version: v4.0
(1 May 2024)
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 Red
Phenotypes
- KERATOSIS LINEARIS WITH ICHTHYOSIS CONGENITA AND SCLEROSING KERATODERMA 601952
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