Eligibility statement for Autosomal recessive congenital ichthyosis (33700): Autosomal recessive congenital ichthyosis inclusion criteria (33461) • Neonates, infants, children and adults with a history of generalised red, dry, peeling skin at birth with a mode of inheritance consistent with autosomal recessive transmission • Diagnosis confirmed by consultant dermatologist Autosomal recessive congenital ichthyosis exclusion criteria (33461) • Ichthyosis vulgaris • STS-related ichthyosis • Syndromic ichthyosis • Keratinopathic ichthyosis • Acquired ichthyosis Prior genetic testing guidance (33461) - 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. Autosomal recessive congenital ichthyosis prior genetic testing genes (33461) Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: TGM1, ALOXE3, ALOX12B, NIPAL4, CYP4F22 and, where appropriate, STS and ABCA12 Closing statement (33461) These requirements will be kept under continual review during the main programme and may be subject to change.
Ellen McDonagh (Genomics England Curator)
Group: Other
Workplace: Other
John McGrath (King's College London)
Group: GeCIP domain
Workplace: Research lab
Sarah Leigh (Genomics England Curator)
Group: Other
Workplace: Other
Denise Williams (Birmingham Women's and Children's NHS Foundation Trust)
Group: Other NHS organisation
Workplace: NHS clinical service
Arina Puzriakova (Genomics England Curator)
Group: Other
Workplace: Other
List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Green List (high evidence) |
ABCA12 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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Green List (high evidence) |
ALDH3A2 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
ALOX12B |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
ALOXE3 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
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Green List (high evidence) |
CERS3 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
CYP4F22 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
Xp22.31 recurrent region (includes STS) LossISCA-37417-LossRegion |
1 review |
X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
NIPAL4 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
PNPLA1 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SDR9C7 |
1 review1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SLC27A4 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
ST14 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
STS |
3 reviews1 red |
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
SULT2B1 |
1 review1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
TGM1 |
2 reviews1 green |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
LIPN |
2 reviews1 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
Promoted to version 1 8th June 2016