Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.5
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
Phenotypes
- Hystrix-like ichthyosis with deafness, 602540
- HID syndrome
- Scarring alopecia
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Level 3: Skin adnexa disorders
Level 2: Dermatological disorders
Version 1.4
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review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Amber
- Literature
Phenotypes
- Keratitis-ichthyosis-deafness syndrome, 148210 with follicular occlusion triad (includes hidradenitis suppurativa)
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Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
Phenotypes
- Keratoderma with deafness
- Deafness, autosomal recessive 1A, 220290
- Deafness, autosomal dominant 3A, 601544
- Vohwinkel syndrome, 124500
- Keratoderma, palmoplantar, with deafness, 148350
- Keratitis-ichthyosis-deafness syndrome, 148210
- Hystrix-like ichthyosis with deafness, 602540
- Bart-Pumphrey syndrome, 149200
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Version 3.28
Latest signed off version: v3.2
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
Phenotypes
- Hystrix-like ichthyosis with deafness, OMIM:602540
- Keratoderma, palmoplantar, with deafness, OMIM:148350
- Keratitis-ichthyosis-deafness syndrome, OMIM:148210
- Vohwinkel syndrome, OMIM:24500
- Bart-Pumphrey syndrome, OMIM:149200
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Version 3.29
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
Phenotypes
- Hystrix-like ichthyosis with deafness, 602540
- clouston syndrome
- Scarring alopecia
- HID syndrome
|
Level 3: Ectodermal dysplasias
Level 2: Dermatological disorders
Version 1.28
|
review
|
Unknown
|
Sources
- Expert Review Red
- Literature
Phenotypes
|
Version 3.25
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- KID syndrome, Ectodermal dysplasia, Bart-Pumphrey syndrome, Ichthyosis hystrix
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Version 3.155
Latest signed off version: v3.0
(22 Mar 2023)
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Red
- PAGE DD-Gene2Phenotype
Phenotypes
- VOHWINKEL SYNDROME
- ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME
- PALMOPLANTAR KERATODERMA WITH DEAFNESS
- BART-PUMPHREY SYNDROME
- DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A
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Version 3.87
Latest signed off version: v3.1
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Removed
- DD-Gene2Phenotype
Phenotypes
- VOHWINKEL SYNDROME 124500
- ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME 602540
- PALMOPLANTAR KERATODERMA WITH DEAFNESS 148350
- DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A 220290
- BART-PUMPHREY SYNDROME 149200
Tags
|
Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.38
Latest signed off version: v4.0
(22 Mar 2023)
Component of the following Super Panels:
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Green
- Eligibility statement prior genetic testing
- Expert
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
Phenotypes
- hearing loss
- Deafness, autosomal recessive 1A, 220290
- Deafness, autosomal dominant 3A, 601544
- Vohwinkel syndrome, 124500
- Keratoderma, palmoplantar, with deafness, 148350
- Keratitis-ichthyosis-deafness syndrome, 148210
- Hystrix-like ichthyosis with deafness, 602540
- Bart-Pumphrey syndrome, 149200
- Nonsyndromic Hearing Loss, Dominant
- Hearing Loss or deafness
|
Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 5.532
Latest signed off version: v5.0
(22 Mar 2023)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Expert Review Red
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Deafness, autosomal recessive 1A, 220290
- Deafness, autosomal
- dominant 3A, 601544
- Vohwinkel syndrome, 124500
- Keratoderma, palmoplantar, with deafness, 148350
- Keratitis-ichthyosis-deafness
- syndrome, 148210
- Hystrix-like ichthyosis with deafness, 602540
- Bart-Pumphrey syndrome, 149200
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Version 1.184
|
review
|
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
|
Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Deafness, autosomal recessive 1A, 220290
- Keratoderma, palmoplantar, with deafness, 148350
- Vohwinkel syndrome, 124500
- Deafness, autosomal dominant 3A, 601544
- Hystrix-like ichthyosis with deafness, 602540
- Bart-Pumphrey syndrome, 149200
- Keratitis-ichthyosis-deafness syndrome, 148210
|