Eligibility statement for Familial disseminated superficial actinic porokeratosis (37644): Familial disseminated superficial actinic porokeratosis inclusion criteria (37750) • Clinical diagnosis of DSAP, AND • At least 2 affected members over 2 generations, AND • If there is any clinical doubt, skin biopsy confirmation should be sought Familial disseminated superficial actinic porokeratosis exclusion criteria (37750) • Mibelli, palmoplantar, punctate, sweat duct naevus-related DSAP Prior genetic testing guidance (37750) - Results should have been reviewed for all genetic tests undertaken, including disease-relevant genes in exome sequencing data. The patient is not eligible if they have a molecular diagnosis for their condition. - Genetic testing should continue according to routine local practice for this phenotype regardless of recruitment to the project; results of these tests must be submitted via the ‘Genetic investigations’ section of the data capture tool to allow comparison of WGS with current standard testing. PLEASE NOTE: The sensitivity of WGS compared to current diagnostic genetic testing has not yet been established. It is therefore important that tests which are clinically indicated under local standard practice continue to be carried out. Familial disseminated superficial actinic porokeratosis prior genetic testing genes (37750) No genes listed Closing statement (37750) These requirements will be kept under continual review during the main programme and may be subject to change.
John McGrath (KCL)
Group: GeCIP domain
Workplace: Research lab
Veronica Kinsler (UCL)
Group: GeCIP domain
Workplace: Research lab
Rebecca Foulger (Genomics England curator)
Group: Other
Workplace: Other
List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Green List (high evidence) |
FDPS |
2 reviews1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
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Green List (high evidence) |
MVD |
2 reviews1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
MVK |
3 reviews1 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Amber List (moderate evidence) |
SART3 |
2 reviews |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Amber List (moderate evidence) |
SLC17A9 |
3 reviews1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
PMVK |
2 reviews1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
SSH1 |
2 reviews1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
Promoted to Version 1 on 7 September 2017. Reviews were assessed and panel was revised after additional curation and Genomics England clinical input.