Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.5
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Green
- Other
Phenotypes
- Keratosis follicularis spinulosa decalvans, X-linked, 208800 (includes progressive cicatricial alopecia of the scalp)
- KFSDX
- scarring alopecia
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Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
Phenotypes
- IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma
- ?Olmsted syndrome, X-linked, 300918
- X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome)
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Level 3: Gastrointestinal disorders
Level 2: Gastroenterological disorders
Version 1.10
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
Phenotypes
- IFAP syndrome with or without BRESHECK syndrome, 308205
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Version 3.25
Latest signed off version: v3.2
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
Phenotypes
- X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques (Olmsted syndrome)
- ?Olmsted syndrome, X-linked, 300918
- IFAP syndrome. 308205, along with pachyonychia, palmoplantar and periorificial keratoderma
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Version 4.18
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Red
- Victorian Clinical Genetics Services
Phenotypes
- IFAP syndrome with or without BRESHECK syndrome 308205
- Polydactyly
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Version 3.28
Latest signed off version: v3.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
Phenotypes
- scarring alopecia
- KFSDX
- Keratosis follicularis spinulosa decalvans, X-linked, 208800 (includes progressive cicatricial alopecia of the scalp)
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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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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Olmstedt syndrome
- IFAP syndrome
- Keratosis follicularis spinulosa decalvans
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.54
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Amber
- Expert list
Phenotypes
- Osteogenesis imperfecta, type XIX, OMIM:301014
- osteogenesis imperfecta, type 19, MONDO:0049223
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Version 3.146
Latest signed off version: v3.0
(22 Mar 2023)
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- PAGE Additional Gene List
- Expert Review Green
Phenotypes
- Keratosis follicularis spinulosa decalvans, X-linked 308800
- IFAP syndrome with or without BRESHECK syndrome 308205
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Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 4.4
Latest signed off version: v4.0
(22 Mar 2023)
|
review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Expert Review Amber
- Expert list
Phenotypes
- Osteogenesis imperfecta, type XIX, OMIM:301014
- osteogenesis imperfecta, type 19, MONDO:0049223
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Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 4.108
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
Phenotypes
- IFAP SYNDROME WITH OR WITHOUT BRESHECK SYNDROME
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.506
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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Sources
- Victorian Clinical Genetics Services
- Expert Review Green
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
Phenotypes
- IFAP syndrome with or without BRESHECK syndrome 308205
- IFAP syndrome with or without BRESHECK syndrome,308205
- Ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia
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Version 1.182
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review
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X-LINKED: hemizygous mutation in males, biallelic mutations in females
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Keratosis follicularis spinulosa decalvans, X-linked, 308800
- Osteogenesis imperfecta, type XIX, 301014
- ?Olmsted syndrome, X-linked, 300918
- IFAP syndrome with or without BRESHECK syndrome, 308205
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