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.
Panel Activity

5 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

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

14 Entities

14 reviewed, 10 green

List Entity Reviews Mode of inheritance Details
14 Entitiess
Green Green List (high evidence)
CHD7
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • CHARGE syndrome, 214800
Tags
Green Green List (high evidence)
CTNND1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • chonal atresia
Tags
Green Green List (high evidence)
EFTUD2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Mandibulofacial dysostosis, Guion-Almeida type 610536
Tags
Green Green List (high evidence)
FAM20C
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Raine syndrome 259775
Tags
Green Green List (high evidence)
FGFR2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
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
Tags
Green Green List (high evidence)
FGFR3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Crouzon syndrome with acanthosis nigricans 612247
Tags
Green Green List (high evidence)
FOXE1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Bamforth-Lazarus syndrome 241850
Tags
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
Tags
Green Green List (high evidence)
TXNL4A
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Research
Phenotypes
  • Burn-McKeown syndrome 608572
Tags
Green Green List (high evidence)
USP9X
2 reviews
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Mental retardation, X-linked 99, syndromic, female-restricted 300968
Tags
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
Tags
Red Red List (low evidence)
SALL4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • Other
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Duane-radial ray syndrome 607323
Tags
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
Tags
No list No list
KMT2D
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
Phenotypes
  • KMT2D-associated neurodevelopmental syndrome
Tags

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