Level 3: Keratodermas
Level 2: Dermatological disorders
Version 1.31
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Other
Phenotypes
- Erythrokeratodermia variabilis et progressiva, 133200
- Erythrokeratodermia Variabilis
- Erythrokeratoderma
- deafness
- peripheral neuropathy
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Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.3
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review
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Not set
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Sources
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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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
Phenotypes
- Erythrokeratodermia variabilis et progressiva, OMIM:133200
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Version 3.12
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1
- EKVP1
- Erythrokeratodermia variabilis
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Version 3.19
Latest signed off version: v3.0
(22 Mar 2023)
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- London North GLH
- NHS GMS
- Expert Review Green
Phenotypes
- Erythrokeratodermia variabilis et progressiva 1, OMIM:133200
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Version 4.1
Latest signed off version: v4.0
(1 May 2024)
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review
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Not set
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Sources
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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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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- DD-Gene2Phenotype
Phenotypes
- DEAFNESS AUTOSOMAL DOMINANT TYPE 2B, OMIM:612644
- ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA, OMIM:133200
- DEAFNESS, AUTOSOMAL RECESSIVE
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Level 3: Non-syndromic hearing loss
Level 2: Hearing and ear disorders
Version 4.41
Latest signed off version: v4.39
(1 May 2024)
Component of the following Super Panels:
Paediatric disorders
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Expert Review Green
- Expert
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
Phenotypes
- hearing loss
- Nonsyndromic Hearing Loss, Dominant
- Erythrokeratodermia variabilis et progressiva, 133200
- Deafness, autosomal dominant 2B, 612644
- Deafness, autosomal recessive
- Deafness, autosomal dominant, with peripheral neuropathy
- Deafness, digenic, GJB2/GJB3, 220290
Tags
- for-review
- to_be_confirmed_NHSE
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Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0
(1 May 2024)
Component of the following Super Panels:
Childhood onset leukodystrophy
Hypotonic infant
Paediatric disorders
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review
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MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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Sources
- Expert Review Amber
- BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
- Erythrokeratodermia variabilis et progressiva, 133200
- Deafness, autosomal dominant 2B, 612644
- Deafness, autosomal recessive
- Deafness, autosomal dominant, with peripheral neuropathy
- Deafness, digenic, GJB2/GJB3, 220290
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Version 1.184
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review
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BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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Sources
- Next Generation Children Project
- Expert Review Green
- Expert list
Phenotypes
- Deafness, autosomal dominant, with peripheral neuropathy
- Deafness, autosomal recessive
- Deafness, digenic, GJB2/GJB3, 220290
- Erythrokeratodermia variabilis et progressiva 1, 133200
- Deafness, autosomal dominant 2B, 612644
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