Description
Choanal atresia eligibility statement:

Choanal atresia inclusion criteria (29450)
- Bilateral bony choanal atresia OR
- Unilateral bony choanal atresia with stenosis of the contralateral side
- As above, with or without additional malformations
- Skull X-rays excluding sclerosing bone dysplasias

Choanal atresia exclusion criteria (29450)
- Teratogens (e.g. Carbimazole, fluconazole)

Prior genetic testing guidance (29450)
- 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.

Choanal atresia prior genetic testing genes (29450)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 - Genome-wide copy number variation testing (e.g. aCGH, SNP array or other genomic microarray)
  - CHD7 if additional malformations suggestive of CHARGE syndrome
  - FGFR2, FGFR3 and other genes linked to craniosynostosis if appropriate

Closing statement (29450)
These requirements will be kept under continual review during the main programme and may be subject to change.

3 reviewers

  • Jill Clayton-Smith (Manchester Centre For Genomic Medicine)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Sofia Douzgou (Manchester Centre of Genomic Medicine)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

11 genes

11 reviewed, 8 green

List Gene Reviews Mode of inheritance Details
11 genes
Green Green List (high evidence)
CHD7
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Expert Review Green
  • Eligibility statement prior genetic testing
Phenotypes
  • CHARGE syndrome, 214800
Green Green List (high evidence)
EFTUD2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Mandibulofacial dysostosis, Guion-Almeida type 610536
Green Green List (high evidence)
FAM20C
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert Review Green
Phenotypes
  • Raine syndrome 259775
Green Green List (high evidence)
FGFR2
1 review
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • Emory Genetics Laboratory
  • Eligibility statement prior genetic testing
Phenotypes
  • Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410
  • Apert syndrome 101200
  • Beare-Stevenson cutis gyrata syndrome 123790
  • Pfeiffer syndrome 101600
  • Craniofacial-skeletal-dermatologic dysplasia 101600
  • Craniosynostosis, nonspecific
Green Green List (high evidence)
FGFR3
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Crouzon syndrome with acanthosis nigricans 612247
Green Green List (high evidence)
FOXE1
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Bamforth-Lazarus syndrome 241850
Green Green List (high evidence)
SPINT2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diarrhea 3, secretory sodium, congenital, syndromic 270420
Green Green List (high evidence)
TXNL4A
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Burn-McKeown syndrome 608572
Red Red List (low evidence)
PTPN14
2 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Choanal atresia and lymphedema, 613611
Red Red List (low evidence)
SALL4
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
  • Other
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Duane-radial ray syndrome 607323
Red Red List (low evidence)
SEMA3E
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • CHARGE syndrome, 214800

0 STRs

0 reviewed, 0 green

List STR Reviews Mode of inheritance Details
0 STRss

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