Description
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.
Panel Activity

5 reviewers

  • 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

16 Entities

16 reviewed, 15 green

List Entity Reviews Mode of inheritance Details
16 Entitiess
Green Green List (high evidence)
ABCA12
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 4A, 601277
  • Ichthyosis, autosomal recessive 4B (harlequin), 242500
Tags
Green Green List (high evidence)
ALDH3A2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Sjogren-Larsson syndrome, OMIM:270200
Tags
Green Green List (high evidence)
ALOX12B
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 2, 242100
Tags
Green Green List (high evidence)
ALOXE3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 3, 606545
Tags
Green Green List (high evidence)
CERS3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 9, 615023
Tags
Green Green List (high evidence)
CYP4F22
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 5, 604777
Tags
Green Green List (high evidence)
Xp22.31 recurrent region (includes STS) Loss
ISCA-37417-Loss
Region
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Ichthyosis, X-linked
  • 308100
Tags
Green Green List (high evidence)
NIPAL4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 6, 612281
Tags
Green Green List (high evidence)
PNPLA1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 10, 615024
Tags
Green Green List (high evidence)
SDR9C7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 13 617574
Tags
Green Green List (high evidence)
SLC27A4
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ichthyosis prematurity syndrome, 608649
Tags
Green Green List (high evidence)
ST14
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 11, with hypotrichosis, 602400
Tags
Green Green List (high evidence)
STS
3 reviews
1 red 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ichthyosis, X-linked, 308100
Tags
Green Green List (high evidence)
SULT2B1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 14, OMIM:617571
  • Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091
Tags
Green Green List (high evidence)
TGM1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 1, 242300
Tags
Red Red List (low evidence)
LIPN
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Ichthyosis, congenital, autosomal recessive 8, 613943
Tags

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