The latest signed off version for the GMS is v5.0. The current version, shown here, may differ from the signed-off version.

Hypertrophic cardiomyopathy (Version 5.29)

Level 2: Cardiology

Relevant disorders: Hypertrophic cardiomyopathy - teen and adult, HCM, R131
Panel types: Rare Disease 100K, GMS Rare Disease Virtual, GMS Rare Disease, Component Of Super Panel, GMS signed-off
Latest signed off version: v5.0 (30 Apr 2025)
Previously signed off versions: v4.16, v4.13, v4.8, v4.0, v3.0, v2.11
Previous code: 55a39e2d22c1fc6711b0c6b3

Description

This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service. The panel will routinely be applied for clinical indication 'R131 Hypertrophic cardiomyopathy' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R131 Hypertrophic cardiomyopathy'.

A version of this panel has been signed off under NHS Genomic Medicine Service governance (see 'Latest signed off version' in the panel header information).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process. The content that is agreed for the GMS panels will be reflected in an updated signed off version number.

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

This panel is also a constituent panel of the super panels 'Sudden cardiac death' and 'Unexplained death in infancy and sudden unexplained death in childhood'. Changes made to this panel will automatically be updated in the relevant super panel(s).

Panel Activity

27 reviewers

Ellen McDonagh (Genomics England Curator)

Group: Other
Workplace: Other
John Sayer (Newcastle University)

Group: GeCIP domain
Workplace: NHS clinical service
Ian Berry (Leeds Genetics Laboratory)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Kate Thomson (Oxford University Hospitals Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Caroline Wright (Genomics England Curator)

Group: Other
Workplace: Genomics England
Sarah Leigh (Genomics England Curator)

Group: Other
Workplace: Other
Alice Gardham (Genomics England)

Group: Other
Workplace: Other
Louise Daugherty (Genomics England Curator)

Group: Other
Workplace: Other
Helen Brittain (Genomics England Curator)

Group: Other
Workplace: Other
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Eleanor Williams (Genomics England Curator)

Group: Other
Workplace: Other
Zornitza Stark (Australian Genomics)

Group: Other
Workplace: Other clinical service
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Ivone Leong (Genomics England Curator)

Group: Other
Workplace: Other
James Eden (Manchester)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Rebecca Whittington (South West GLH)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Dmitrijs Rots (Children's Clinical University Hospital)

Group: Other
Workplace: Research lab
Arina Puzriakova (Genomics England Curator)

Group: Other
Workplace: Other
Nour Elkhateeb (Cambridge University Hospitals NHS Foundation Trust)

Group: NHS Genomic Medicine Centre
Workplace: NHS clinical service
Oliver Watkinson (NHS)

Group: Other NHS organisation
Workplace: NHS clinical service
Luis Lopes (University College London)

Group: GeCIP domain
Workplace: NHS clinical service
Katherine Schon (University of Cambridge)

Group: GeCIP domain
Workplace: NHS clinical service
Achchuthan Shanmugasundram (Genomics England Curator)

Group: Other
Workplace: Other
Jesse Hayesmoore (Oxford Regional Genetics Laboratory)

Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Riyaad Aungraheeta (Bristol Genetics Laboratory)

Group: Other NHS organisation
Workplace: NHS diagnostic lab
Ida Ertmanska (Genomics England Curator)

Group: Other
Workplace: Other

83 Entities

83 reviewed, 24 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 83 Entitiess
Green List (high evidence)	ACTC1	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH South West GLH UKGTN Phenotypes Cardiomyopathy, familial hypertrophic, 11 Atrial septal defect 5 (612794) Left ventricular noncompaction 4 (613424) Cardiomyopathy, hypertrophic, 11 (612098) Cardiomyopathy, dilated, 1R (613424) Hypertrophic Cardiomyopathy Tags
Green List (high evidence)	ACTN2	7 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH South West GLH UKGTN Wessex and West Midlands GLH Phenotypes Cardiomyopathy, dilated, 1AA, with or without LVNC 612158 Cardiomyopathy, hypertrophic, 23, with or without LVNC 612158 Tags
Green List (high evidence)	ALPK3	8 reviews 7 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Cardiomyopathy, familial hypertrophic 27, OMIM:618052 Tags
Green List (high evidence)	CACNA1C	5 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature South West GLH Phenotypes Hypertrophic cardiomyopathy Timothy syndrome, OMIM:601005 Timothy syndrome, MONDO:0010979 Long QT syndrome 8, OMIM:618447 long qt syndrome 8, MONDO:0032756 Brugada syndrome 3, OMIM:611875 Brugada syndrome 3, MONDO:0012742 CACNA1C-related disorder Tags
Green List (high evidence)	CSRP3	8 reviews 5 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Cardiomyopathy, hypertrophic, 12 (612124) ?Cardiomyopathy, dilated, 1M (607482) Cardiomyopathy, familial hypertrophic, 12 Tags
Green List (high evidence)	FHL1	7 reviews 5 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green London South GLH North West GLH South West GLH UKGTN Phenotypes Reducing body myopathy, X-linked 1b, with late childhood or adult onset (300718) Myopathy, X-linked, with postural muscle atrophy (300696) ?Uruguay faciocardiomusculoskeletal syndrome (300280) Scapuloperoneal myopathy, X-linked dominant (300695) Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (300717) Emery-Dreifuss muscular dystrophy 6, X-linked (300696) Tags
Green List (high evidence)	FHOD3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Hypertrophic cardiomyopathy, MONDO:0005045 Tags
Green List (high evidence)	FLNC	7 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Oxford Medical Genetics Laboratory South West GLH Wessex and West Midlands GLH Phenotypes Cardiomyopathy, familial hypertrophic, 26, OMIM:617047 Cardiomyopathy, familial restrictive 5, OMIM:617047 Hypertrophic cardiomyopathy 26, MONDO:0014883 Tags
Green List (high evidence)	GLA	7 reviews 5 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH South West GLH UKGTN Phenotypes Fabry disease (301500) syndromic HCM Fabry disease, cardiac variant (301500) Tags
Green List (high evidence)	KLHL24	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, OMIM:620236 cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MONDO:0859372 Tags
Green List (high evidence)	LAMP2	7 reviews 5 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH South West GLH UKGTN Phenotypes Danon disease (300257) syndromic HCM Tags
Green List (high evidence)	MYBPC3	7 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Cardiomyopathy, familial hypertrophic, 4, Cardiomyopathy, hypertrophic, 4 (115197) Left ventricular noncompaction 10 (615396) Cardiomyopathy, dilated, 1MM (615396) Tags
Green List (high evidence)	MYH7	8 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Cardiomyopathy, hypertrophic, 1, OMIM:192600 Hypertrophic cardiomyopathy 1, MONDO:0008647 Tags watchlist_moi
Green List (high evidence)	MYL2	8 reviews 6 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, OMIM:619424 Cardiomyopathy, hypertrophic, 10, OMIM:608758 Tags Q1_26_MOI
Green List (high evidence)	MYL3	7 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Cardiomyopathy, familial hypertrophic, 8, Cardiomyopathy, familial hypertrophic, 8 (608751) Tags
Green List (high evidence)	PLN	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Cardiomyopathy, familial hypertrophic, 18, Cardiomyopathy, dilated, 1P (609909) Cardiomyopathy, hypertrophic, 18 (613874) Tags
Green List (high evidence)	PRKAG2	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Wolff-Parkinson-White syndrome (194200) syndromic HCM Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome Cardiomyopathy, familial hypertrophic 6, Cardiomyopathy, familial hypertrophic 6 (600858) Glycogen storage disease of heart, lethal congenital (261740) Tags
Green List (high evidence)	TBX20	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Atrial septal defect 4, OMIM:611363 atrial septal defect 4, MONDO:0012654 Dilated cardiomyopathy, MONDO:0005021 Tags
Green List (high evidence)	TNNC1	7 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 13, Cardiomyopathy, dilated, 1Z (611879) Cardiomyopathy, hypertrophic, 13 (613243) Tags
Green List (high evidence)	TNNI3	7 reviews 5 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Cardiomyopathy, familial hypertrophic, 7 ?Cardiomyopathy, dilated, 2A (611880) Cardiomyopathy, dilated, 1FF (613286) Cardiomyopathy, familial restrictive, 1 (115210) Cardiomyopathy, hypertrophic, 7 (613690) Tags
Green List (high evidence)	TNNT2	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Eligibility statement prior genetic testing Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Cardiomyopathy, familial restrictive, 3 (612422) Cardiomyopathy, hypertrophic, 2 (115195) Cardiomyopathy, dilated, 1D (601494) Cardiomyopathy, familial hypertrophic, 2 Left ventricular noncompaction 6 (601494) Tags
Green List (high evidence)	TPM1	7 reviews 5 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH UKGTN Phenotypes Left ventricular noncompaction 9 ( 611878) Cardiomyopathy, hypertrophic, 3 (115196) Cardiomyopathy, familial hypertrophic, 3 Cardiomyopathy, dilated, 1Y (611878) Tags
Green List (high evidence)	TRIM63	5 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature South West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 31, OMIM:621270 cardiomyopathy, familial hypertrophic, 31, MONDO:0979573 Tags
Green List (high evidence)	TTR	6 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Green London South GLH South West GLH Wessex and West Midlands GLH Phenotypes Cardiac amyloidosis Amyloidosis, hereditary, transthyretin-related, 105210 Tags treatable
Amber List (moderate evidence)	ATAD3A	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Harel-Yoon syndrome, OMIM:617183 Tags watchlist
Amber List (moderate evidence)	GYG1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ?Glycogen storage disease XV, OMIM:613507 hypertrophic cardiomyopathy, MONDO:0005045 Tags watchlist
Amber List (moderate evidence)	JPH2	11 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Amber London South GLH NHS GMS Radboud University Medical Center, Nijmegen South West GLH Phenotypes Cardiomyopathy, hypertrophic, 17, OMIM:613873 Tags
Amber List (moderate evidence)	MT-TI	6 reviews 2 green	MITOCHONDRIAL	Sources Expert Review Amber NHS GMS Wessex and West Midlands GLH Phenotypes familial hypertrophic cardiomyopathy, MONDO:0024573 familial dilated cardiomyopathy, MONDO:0016333 Tags gene-checked locus-type-rna-transfer
Amber List (moderate evidence)	MYLK2	6 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH Phenotypes Cardiomyopathy, hypertrophic, 1, digenic (192600) Cardiomyopathy, hypertrophic, midventricular, digenic, Tags
Amber List (moderate evidence)	MYPN	4 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list London South GLH Radboud University Medical Center, Nijmegen South West GLH Phenotypes Cardiomypathy, familial hypertrophic, 22, Tags
Amber List (moderate evidence)	RPS6KB1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Hypertrophic cardiomyopathy Tags
Amber List (moderate evidence)	SVIL	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes hypertrophic cardiomyopathy, MONDO:0005045 Tags
Amber List (moderate evidence)	TULP3	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Hepatorenocardiac degenerative fibrosis, OMIM:619902 Tags
Red List (low evidence)	ACADVL	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	ACTA1	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature South West GLH Phenotypes Hypertrophic cardiomyopathy Dilated cardiomyopathy Tags
Red List (low evidence)	AGL	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	ANKRD1	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list London South GLH South West GLH UKGTN Tags
Red List (low evidence)	ATP5E	3 reviews 1 red	Unknown	Sources Expert list South West GLH Phenotypes syndromic HCM Tags new-gene-name
Red List (low evidence)	BRAF	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	CALR3	2 reviews 1 red	Unknown	Sources Expert list Radboud University Medical Center, Nijmegen South West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 19 Tags
Red List (low evidence)	CASQ2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Literature South West GLH Phenotypes Hypertrophic cardiomyopathy Left ventricular non-compaction Catecholaminergic polymorphic ventricular tachycardia Tags
Red List (low evidence)	CAV3	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services London South GLH Radboud University Medical Center, Nijmegen South West GLH Phenotypes Cardiomyopathy, familial hypertrophic, Tags
Red List (low evidence)	COA5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	CRYAB	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list London South GLH Radboud University Medical Center, Nijmegen South West GLH Phenotypes Myopathy, myofibrillar, 2, OMIM:608810 Tags
Red List (low evidence)	DES	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list South West GLH Tags
Red List (low evidence)	FOXRED1	2 reviews 1 red	Unknown	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	FXN	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list South West GLH Phenotypes Friedreich ataxia, OMIM:229300 Friedreich ataxia with retained reflexes, OMIM:229300 Tags nucleotide-repeat-expansion
Red List (low evidence)	GAA	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list London South GLH South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	GLB1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	GUSB	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	HRAS	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	KCNQ1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature South West GLH Phenotypes Hypertrophic cardiomyopathy Long QT syndrome Short QT syndrome Tags
Red List (low evidence)	KLF10	2 reviews 1 red	Unknown	Sources Literature South West GLH Phenotypes Hypertrophic cardiomyopathy Tags
Red List (low evidence)	LDB3	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list London South GLH South West GLH Tags
Red List (low evidence)	LMNA	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Illumina TruGenome Clinical Sequencing Services South West GLH Phenotypes Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Tags
Red List (low evidence)	LZTR1	5 reviews 1 green 3 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes RASopathy-associated cardiomyopathy Tags
Red List (low evidence)	MAP2K1	2 reviews 1 red	Unknown	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	MAP2K2	2 reviews 1 red	Unknown	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	MRPL3	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	MYH6	6 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH Wessex and West Midlands GLH Phenotypes Cardiomyopathy, dilated, 1EE (613252) Atrial septal defect 3 (614089) {Sick sinus syndrome 3} (614090) Cardiomyopathy, hypertrophic, 14 (613251) Cardiomyopathy, familial hypertrophic, 14 Tags
Red List (low evidence)	MYO6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Radboud University Medical Center, Nijmegen South West GLH Phenotypes Deafness, autosomal dominant 22, with hypertrophic cardiomyopathy Tags
Red List (low evidence)	MYOM1	2 reviews	Unknown	Sources Expert list South West GLH Tags
Red List (low evidence)	MYOZ2	4 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services London South GLH Radboud University Medical Center, Nijmegen South West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 16, Tags
Red List (low evidence)	NEXN	6 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH Radboud University Medical Center, Nijmegen South West GLH Phenotypes Cardiomyopathy, hypertrophic, 20, OMIM:613876 Tags
Red List (low evidence)	NRAS	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	PDLIM3	2 reviews 1 red	Unknown	Sources Expert list South West GLH Tags
Red List (low evidence)	PTPN11	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	RAF1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	SCO2	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	SHOC2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	SLC25A3	5 reviews 2 red	Unknown	Sources Expert list Expert Review Red South West GLH Phenotypes Mitochondrial phosphate carrier deficiency, 610773 Tags
Red List (low evidence)	SLC25A4	3 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature North West GLH South West GLH Phenotypes Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR (615418) Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD (617184) Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 (609283) Hypertrophic cardiomyopathy Tags
Red List (low evidence)	SOS1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	TBX1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature Phenotypes Hypertrophic cardiomyopathy, HP:0001639 Tags
Red List (low evidence)	TCAP	4 reviews 3 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Illumina TruGenome Clinical Sequencing Services London South GLH North West GLH South West GLH Phenotypes Cardiomyopathy, hypertrophic, 25 (607487) Muscular dystrophy, limb-girdle, autosomal recessive 7 (601954) Tags
Red List (low evidence)	TMEM70	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list South West GLH Phenotypes syndromic HCM Tags
Red List (low evidence)	TSFM	6 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red South West GLH Phenotypes Combined oxidative phosphorylation deficiency 3 610505 Tags
Red List (low evidence)	TTN	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Emory Genetics Laboratory Expert list Expert Review Red Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen South West GLH Phenotypes Cardiomyopathy, familial hypertrophic, 9, Tags
Red List (low evidence)	VCL	4 reviews 4 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list North West GLH Radboud University Medical Center, Nijmegen South West GLH Phenotypes Cardiomyopathy, dilated, 1W (611407) Cardiomyopathy, familial hypertrophic, 15, Cardiomyopathy, hypertrophic, 15 (613255) Tags
No list	FXN_GAA STR	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Removed NHS GMS Phenotypes Friedreich ataxia OMIM:229300 Friedreich ataxia with retained reflexes OMIM:229300 Friedreich ataxia 1 MONDO:0100340 Tags curated_removed STR
No list	MT-ND5	4 reviews 1 green 1 red	MITOCHONDRIAL	Sources Expert Review Removed Literature Phenotypes hypertrophic cardiomyopathy, MONDO:0005045 Tags curated_removed
No list	MT-TL1	5 reviews 1 green 1 red	MITOCHONDRIAL	Sources Expert Review Expert Review Removed South West GLH Phenotypes MELAS syndrome caused by mutation in MTTL1, MONDO:0800032 hypertrophic cardiomyopathy, MONDO:0005045 Tags curated_removed locus-type-rna-transfer
No list	MT-TV	3 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Removed Literature Phenotypes MELAS syndrome, MONDO:0010789 hypertrophic cardiomyopathy, MONDO:000504 Tags curated_removed locus-type-rna-transfer

Major version comments

2025-04-30 16:31 Sarah Leigh (Genomics England Curator) promoted panel to 5.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (5.0) following this.

2023-03-22 15:02 Arina Puzriakova (Genomics England Curator) promoted panel to 4.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (4.0) following this.

2022-11-30 13:52 Eleanor Williams (Genomics England Curator) promoted panel to 3.0
The content of this panel has been updated in accordance with changes agreed with the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0) following this.

2019-12-09 14:37 Ivone Leong (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.94) was signed off under NHS Genomic Medicine Service governance on (09/12/2019). The panel was promoted to the next major version (version 2.0) as a result of this.

GEL: 14 February 2016

Hypertrophic cardiomyopathy (Version 5.29)

27 reviewers

83 Entities

83 reviewed, 24 green

7 reviews

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8 reviews

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3 reviews

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7 reviews

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7 reviews

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8 reviews

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8 reviews

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7 reviews

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7 reviews

Sources

Phenotypes

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7 reviews

Sources

Phenotypes

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3 reviews

Sources

Phenotypes

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7 reviews

Sources

Phenotypes

Tags