Isomerism and laterality disorders (Version 0.10)

This Panel is marked as Internal

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.

Panel Activity

4 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
Catherine Snow (Genomics England)

Group: Other
Workplace: Other

45 Entities

7 reviewed, 3 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 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 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	1 review	Not set	Sources UKGTN Phenotypes Primary Ciliary Dyskinesia situs inversus Tags new-gene-name
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	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources UKGTN Phenotypes Primary Ciliary Dyskinesia situs inversus Tags new-gene-name
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

Isomerism and laterality disorders (Version 0.10)

4 reviewers

45 Entities

7 reviewed, 3 green

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