Description
The decision was made to keep the gene panel for Isomerism and laterality disorders (11034) seperate from the Familial non syndromic congenital heart disease gene panel. 

Eligibility statement for Familial congenital heart disease (42212):

Familial congenital heart disease inclusion criteria (42214)
Congenital heart disease
AND one or more of the following:
One or more first degree relative with congenital heart disease, OR
Parental consanguinity

Individuals with severe or syndromic disease or with consanguinity and a pedigree in keeping with autosomal recessive inheritance should be recruited according to standard guidance, typically as trios. Disease status of apparently unaffected participants should be determined according to standard clinical practice to detect cryptic disease.

In other cases, unaffected individuals should not be recruited. Recruitment in such families should favour multiplex families over single isolated cases. These singleton recruits will not contribute to the overall singleton monitoring metrics applied to GMCs.

Familial congenital heart disease exclusion criteria (42214)
Recognised syndromic presentation (e.g. Noonan syndrome)
Likely causative environmental insult during gestation

Prior genetic testing guidance (42214)
- 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 congenital heart disease prior genetics testing genes (42214)
Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: 
 No genes specified

Closing statement (42214)
These requirements will be kept under continual review during the main programme and may be subject to change.

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Bernard Keavney (The University of Manchester)

    Group: GeCIP domain
    Workplace: Other clinical service

  • Kirsty McCaffrey (Manchester Centre for Genomic Medicine)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

45 Entities

5 reviewed, 3 green

List Entity Reviews Mode of inheritance Details
45 Entitiess
Green Green List (high evidence)
ACVR2B
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Heterotaxy syndrome
  • Heterotaxy, visceral, 4, autosomal, 613751
  • Visceral Heterotaxy, Heterotaxy, Visceral, 4, Autosomal
Tags
Green Green List (high evidence)
NODAL
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Heterotaxy syndrome
  • Heterotaxy, visceral, 5, 270100
  • Visceral Heterotaxy, Heterotaxy, Visceral, 5, Autosomal
Tags
Green Green List (high evidence)
ZIC3
0 reviews
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • x-linked Heterotaxy syndrome, Visceral, 1
  • Heterotaxy, visceral, 1, X-linked 306955
  • Visceral Heterotaxy, Heterotaxy, Visceral, 1, X-Linked
Tags
Amber Amber List (moderate evidence)
ACTC1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Atrial septal defect
  • Atrial septal defect 5, 612794
Tags
Amber Amber List (moderate evidence)
CFC1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Heterotaxy, visceral, 2, autosomal, 605376
  • Visceral Heterotaxy, Heterotaxy, Visceral, 2, Autosomal
Tags
Amber Amber List (moderate evidence)
CRELD1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Atrioventricular septal defect, partial, with heterotaxy syndrome, 2, 606217
  • Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217
  • Visceral Heterotaxy Atrioventricular Septal Defect, Susceptibility To, 2
Tags
Amber Amber List (moderate evidence)
DNAH11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884
  • situs inversus
Tags
Amber Amber List (moderate evidence)
DNAH5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644
  • situs inversus
Tags
Amber Amber List (moderate evidence)
DNAI1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400
  • situs inversus
Tags
Amber Amber List (moderate evidence)
GDF1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Right atrial isomerism
  • Right atrial isomerism, 208530
  • Visceral Heterotaxy, Transposition Of The Great Arteries, Dextro-Looped 3
Tags
Amber Amber List (moderate evidence)
MYH6
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Atrial septal defect
  • Atrial septal defect 3, 614089
Tags
Red Red List (low evidence)
AGPAT2
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia and Reduced Generation of Multiple Motile Cilia Syndrome
  • situs inversus
Tags
Red Red List (low evidence)
CCDC103
1 review
Not set
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • situs inversus
Tags
Red Red List (low evidence)
CCDC114
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • situs inversus
Tags
Red Red List (low evidence)
CCDC39
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • situs inversus
Tags
Red Red List (low evidence)
CCDC40
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • situs inversus
Tags
Red Red List (low evidence)
CFAP53
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • Visceral Heterotaxy
  • Heterotaxy, Visceral, 6, Autosomal
Tags
Red Red List (low evidence)
CITED2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Atrial septal defect 8, 614433
Tags
Red Red List (low evidence)
DNAAF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • situs inversus
Tags
Red Red List (low evidence)
DNAAF2
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • situs inversus
Tags
Red Red List (low evidence)
DNAAF3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • situs inversus
Tags
Red Red List (low evidence)
DNAAF5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • situs inversus
Tags
Red Red List (low evidence)
DNAI2
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • situs inversus
Tags
Red Red List (low evidence)
DNAL1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • situs inversus
Tags
Red Red List (low evidence)
FOXH1
1 review
Not set
Sources
  • Literature
Tags
Red Red List (low evidence)
GATA4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Atrial septal defect 2,607941
  • Atrioventricular septal defect 4,614430
Tags
Red Red List (low evidence)
GATA5
0 reviews
Not set
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Atrial septal defect (Jiang (2013) Int J Cardiol 165,570)
Tags
Red Red List (low evidence)
GATA6
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Atrioventricular septal defect 5, 614474
  • Atrial septal defect 9, 614475
Tags
Red Red List (low evidence)
GJA1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Atrioventricular septal defect 3,600309
Tags
Red Red List (low evidence)
HYDIN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • situs inversus
Tags
Red Red List (low evidence)
LEFTY2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • Literature
Phenotypes
  • Heterotaxy syndrome
Tags
Red Red List (low evidence)
LRRC6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • situs inversus
Tags
Red Red List (low evidence)
LZTFL1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • Visceral Heterotaxy
  • Bardet-Biedl Syndrome 17
Tags
Red Red List (low evidence)
MMP21
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Heterotaxy,visceral,7,autosomal,616749
Tags
Red Red List (low evidence)
NKX2-5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Literature
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Atrial septal defect 7, with or without AV conduction defects, 108900
Tags
Red Red List (low evidence)
NME8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia and Reduced Generation of Multiple Motile Cilia Syndrome
  • situs inversus
Tags
Red Red List (low evidence)
NPHP4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • UKGTN
Phenotypes
  • Visceral Heterotaxy, Nephronophthisis 4
Tags
Red Red List (low evidence)
OFD1
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia and Reduced Generation of Multiple Motile Cilia Syndrome
  • situs inversus
Tags
Red Red List (low evidence)
RPGR
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia and Reduced Generation of Multiple Motile Cilia Syndrome
  • situs inversus
Tags
Red Red List (low evidence)
RPSA
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Asplenia, isolated congenital, 271400
Tags
Red Red List (low evidence)
RSPH4A
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • situs inversus
Tags
Red Red List (low evidence)
RSPH9
0 reviews
Not set
Sources
  • UKGTN
Phenotypes
  • Primary Ciliary Dyskinesia
  • situs inversus
Tags
Red Red List (low evidence)
SHROOM3
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Heterotaxy (Tariq (2011) Genome Biol 12,R91)
Tags
Red Red List (low evidence)
TBX20
0 reviews
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Atrial septal defect 4, 611363
Tags
Red Red List (low evidence)
TLL1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Atrial septal defect 6, 613087
Tags

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