Cardiomyopathy_Paediatric (Version 1.359)

Description

With thanks to Genomics England PanelApp for the original design of this panel.

This panel contains genes associated with childhood-onset cardiomyopathy, including as part of syndromic and metabolic conditions.

The panel was fully reviewed and updated in September 2026.

Panel Activity

31 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
John Christodoulou (Murdoch Children's Research Institute)
Tiong Tan (Victorian Clinical Genetics Services)
Sarah Donoghue (Royal Children's Hospital)
Paul De Fazio (Victorian Clinical Genetics Services)
Ivan Macciocca (Victorian Clinical Genetics Services)
Ivan Macciocca (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Suliman Khan (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
chirag patel (Genetic Health Queensland)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Naomi Baker (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Krithika Murali (Pathology Queensland)
Sarah Milton (Victorian Clinical Genetics Services)
Leah Frajman (Victorian Clinical Genetics Services)
Natasha Henden (Ingles Lab, Garvan Institute of Medical Research)
Zornitza Stark (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Rylee Peters (Victorian Clinical Genetics Services)
Carlos Smith-Diaz (Ingles Lab, Garvan Institute of Medical Research)
Richard Lin (Victorian Clinical Genetics Services)
Eleanor Ludington (Victorian Clinical Genetics Services)

284 Entities

270 reviewed, 171 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 284 Entitiess
Green Green List (high evidence)	AARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes combined oxidative phosphorylation defect type 8, MONDO:0013570 Tags
Green Green List (high evidence)	ABCC9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Hypertrichotic osteochondrodysplasia (Cantu syndrome), MIM# 239850 Cardiomyopathy, dilated, 1O Dilated Cardiomyopathy, Dominant Tags
Green Green List (high evidence)	ACAD9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes acyl-CoA dehydrogenase 9 deficiency, MONDO:0012624 Tags treatable
Green Green List (high evidence)	ACADVL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes VLCAD deficiency, MIM#201475 Tags treatable
Green Green List (high evidence)	ACTA1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes congenital fiber-type disproportion myopathy, MONDO:0009711 Tags
Green Green List (high evidence)	ACTC1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, hypertrophic, 11, MIM# 612098 Tags
Green Green List (high evidence)	ACTN2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Phenotypes Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158 Tags
Green Green List (high evidence)	AGK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Sengers syndrome, MIM#212350 Tags
Green Green List (high evidence)	AGL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Glycogen storage disease IIIa and IIIb, MIM#232400 Tags
Green Green List (high evidence)	ALMS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green NHS GMS Phenotypes Cardiomyopathy, MONDO:0004994 Tags
Green Green List (high evidence)	ALPK3	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cardiomyopathy, familial hypertrophic 27 MIM#618052 Tags
Green Green List (high evidence)	ARSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes mucopolysaccharidosis type 6, MONDO:0009661 Tags
Green Green List (high evidence)	ATAD3A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Harel-Yoon syndrome, MIM# 617183 Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal (PHRINL SYNDROME), MIM# 618810 perinatal cardiomyopathy cataracts corneal clouding Tags SV/CNV
Green Green List (high evidence)	BAG3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes myofibrillar myopathy 6, MONDO:0013061 dilated cardiomyopathy 1HH, MONDO:0013479 Tags
Green Green List (high evidence)	BOLA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM#614299 Tags
Green Green List (high evidence)	BRAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Noonan syndrome, MONDO:0018997 cardiofaciocutaneous syndrome 1, MONDO:0007265 Tags
Green Green List (high evidence)	C10orf71	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 1QQ, MIM# 621251 Tags
Green Green List (high evidence)	C1QBP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 33, MIM#617713 Tags
Green Green List (high evidence)	CAMK2D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), CAMK2D-related Tags
Green Green List (high evidence)	CAP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cardiomyopathy, dilated, 2I (MIM#620462) Tags
Green Green List (high evidence)	CASZ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021, CASZ1-related left ventricular non compaction Tags
Green Green List (high evidence)	CBL	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563 Tags
Green Green List (high evidence)	CHKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541 Tags
Green Green List (high evidence)	COA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, MONDO:0014668 Tags
Green Green List (high evidence)	COQ2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Coenzyme Q10 deficiency, primary, 1, MIM#607426 Tags
Green Green List (high evidence)	COQ4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Tags treatable
Green Green List (high evidence)	COQ9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Coenzyme Q10 deficiency, primary, 5, MIM# 614654 dev delay hypothermia seizures, cardiomyopathy left ventricular noncompaction truncal hypotonia peripheral hypotonia brain MRI abnormalities microcephaly Tags
Green Green List (high evidence)	COX15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, MONDO:0014051 Tags
Green Green List (high evidence)	CPT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes CPT II deficiency, infantile, MIM# 600649 CPT II deficiency, lethal neonatal, MIM# 608836 Tags treatable
Green Green List (high evidence)	CSRP3	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic, 12, MIM# 612124 Tags
Green Green List (high evidence)	DES	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1I, MIM# 604765 Tags
Green Green List (high evidence)	DMD	1 review 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 Review Green NHS GMS South West GLH Phenotypes Becker muscular dystrophy, MIM:300376 Cardiomyopathy, dilated, 3B, MIM:302045 Duchenne muscular dystrophy, MIM: 310200 Tags
Green Green List (high evidence)	DNAJC19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes 3-methylglutaconic aciduria type 5, MONDO:0012435 3-methylgutaconic aciduria, type V, OMIM:610198 Tags
Green Green List (high evidence)	DNM1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1 - MIM#614388 Tags
Green Green List (high evidence)	DOLK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes DK1-CDG, MONDO:0012556 Congenital disorder of glycosylation, type Im, MIM# 610768 Tags
Green Green List (high evidence)	DSG2	3 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Victorian Clinical Genetics Services Phenotypes Arrhythmogenic right ventricular dysplasia 10 Cardiomyopathy, dilated, 1BB, Tags
Green Green List (high evidence)	DSP	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes arrhythmogenic cardiomyopathy with wooly hair and keratoderma, MONDO:0011581 dilated cardiomyopathy, MONDO:0005021 Tags
Green Green List (high evidence)	DST	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital myopathy 29 with contractures, MIM#621510 Tags
Green Green List (high evidence)	ELAC2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 17, MIM# 615440 cardiomyopathy hypotonia growth failure dev delay microcephaly sensorineural deafness brain MRI abnormalities Tags
Green Green List (high evidence)	EMD	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS South West GLH Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked, MIM#310300 Tags
Green Green List (high evidence)	EPG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Vici syndrome, MIM# 242840 Tags
Green Green List (high evidence)	FAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Tyrosinaemia, type I, MIM# 276700 Tags treatable
Green Green List (high evidence)	FARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency MIM#614946 Tags
Green Green List (high evidence)	FBN1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Marfan syndrome MIM#154700 Tags
Green Green List (high evidence)	FBXL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM#615471 Tags
Green Green List (high evidence)	FHL1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green NHS GMS South West GLH Phenotypes Emery-Dreifuss muscular dystrophy 6, X-linked, MIM# 300696 Tags
Green Green List (high evidence)	FHOD3	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Cardiomyopathy, familial hypertrophic, 28, MIM# 619402 Tags
Green Green List (high evidence)	FKTN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes dilated cardiomyopathy 1X, MONDO:0012704 muscular dystrophy-dystroglycanopathy, type A, MONDO:0000171 Tags
Green Green List (high evidence)	FLII	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 2J, MIM# 620635 Tags
Green Green List (high evidence)	FLNC	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Green NHS GMS Phenotypes Cardiomyopathy, familial dilated, 1PP, MIM# 617047 Cardiomyopathy, familial hypertrophic, 26, MIM# 617047 Tags
Green Green List (high evidence)	FNIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 93 and hypertrophic cardiomyopathy, MIM# 619705 Tags
Green Green List (high evidence)	FXN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Friedreich ataxia, MIM# 229300 Tags STR
Green Green List (high evidence)	FXN_FRDA_GAA STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Friedreich ataxia MIM#229300 Tags paediatric-onset
Green Green List (high evidence)	GAA	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH MetBioNet NHS GMS South West GLH Phenotypes Pompe disease, infantile-onset, MIM# 232300 Tags
Green Green List (high evidence)	GBE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes glycogen storage disease due to glycogen branching enzyme deficiency, MONDO:0009292 Tags
Green Green List (high evidence)	GLB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes GM1-gangliosidosis, type I, MIM# 230500 Tags
Green Green List (high evidence)	GTPBP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Combined oxidative phosphorylation deficiency 23 MIM#616198 Tags
Green Green List (high evidence)	GUSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes Mucopolysaccharidosis VII, MIM# 253220 Tags
Green Green List (high evidence)	HADHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes mitochondrial trifunctional protein deficiency, MONDO:0012172 Tags treatable
Green Green List (high evidence)	HADHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH MetBioNet NHS GMS Phenotypes mitochondrial trifunctional protein deficiency, MONDO:0012172 Tags treatable
Green Green List (high evidence)	HCN4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes Sick sinus syndrome MONDO:0001823 Tags
Green Green List (high evidence)	HRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Costello syndrome syndromic HCM Tags
Green Green List (high evidence)	HSD17B10	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes HSD10 mitochondrial disease, MIM# 300438 intellectual disability regression seizures cardiomyopathy (dilated or hypertrophic) choreoathetosis optic atrophy retinal degeneration Tags
Green Green List (high evidence)	IDH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes D-2-hydroxyglutaric aciduria 2, MIM# 613657 Tags treatable
Green Green List (high evidence)	IDS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green MetBioNet NHS GMS Phenotypes mucopolysaccharidosis type 2, MONDO:0010674 Tags
Green Green List (high evidence)	IDUA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes mucopolysaccharidosis type 1, MONDO:0001586 Tags
Green Green List (high evidence)	JUP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 12, MIM# 611528 Naxos disease, MIM# 601214 Tags
Green Green List (high evidence)	KLHL24	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies MIM#620236 Epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy, MIM# 617294 Tags
Green Green List (high evidence)	KRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiofaciocutaneous syndrome 2, MIM# 615278 Noonan syndrome 3, MIM# 609942 Tags
Green Green List (high evidence)	LAMP2	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green London South GLH NHS GMS South West GLH Victorian Clinical Genetics Services Phenotypes Danon disease, MIM#300257 Tags
Green Green List (high evidence)	LDB3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1C, with or without LVNC, MIM# 601493 Cardiomyopathy, dilated, 2L, MIM# 621237 Tags
Green Green List (high evidence)	LETM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, MONDO:0859304 Tags
Green Green List (high evidence)	LMNA	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1A, MIM# 115200 Emery-Dreifuss muscular dystrophy 2, autosomal dominant, MIM# 181350 Emery-Dreifuss muscular dystrophy 3, autosomal recessive, MIM# 616516 Tags
Green Green List (high evidence)	LMOD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy MONDO:0005021 Tags
Green Green List (high evidence)	LRPPRC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian), MIM# 220111 Tags
Green Green List (high evidence)	LZTR1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert List Expert Review Green NHS GMS Phenotypes Noonan syndrome 10, MIM# 616564 Tags
Green Green List (high evidence)	MAP2K1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes cardiofaciocutaneous syndrome, MONDO:0015280 Tags
Green Green List (high evidence)	MAP2K2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes cardiofaciocutaneous syndrome 4, MONDO:0014114 Tags
Green Green List (high evidence)	MAP3K7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Cardiospondylocarpofacial syndrome MIM#157800 Tags
Green Green List (high evidence)	MED12	1 review 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 Review Green Literature Phenotypes Hardikar syndrome MIM#301068 Tags
Green Green List (high evidence)	MIPEP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 31, MIM# 617228 cardiomyopathy left ventricular noncompaction seizures hypotonia dev delay cataracts Tags
Green Green List (high evidence)	MLYCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes malonic aciduria, MONDO:0009556 Tags treatable
Green Green List (high evidence)	MMACHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes methylmalonic aciduria and homocystinuria type cblC, MONDO:0010184 Tags
Green Green List (high evidence)	MRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Noonan syndrome, MIM#618499 Tags
Green Green List (high evidence)	MRPL44	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Combined oxidative phosphorylation deficiency 16, 615395 Tags
Green Green List (high evidence)	MRPS22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 5 , MIM#611719 hypertrophic or dilated cardiomyopathy microcephaly hypotonia spastic tetraplegia abnormal brain MRI Tags
Green Green List (high evidence)	MT-ATP6	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Literature Phenotypes Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags
Green Green List (high evidence)	MT-TG	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial disease (MONDO:0044970), MT-TG-related Tags mtDNA
Green Green List (high evidence)	MT-TI	3 reviews 1 green	MITOCHONDRIAL	Sources Expert Review Green Literature NHS GMS Phenotypes Mitochondrial disease (MONDO:0044970), MT-TI-related Tags mtDNA
Green Green List (high evidence)	MT-TR	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes mitochondrial disease (MONDO:0044970), MT-TR-related Tags mtDNA
Green Green List (high evidence)	MT-TS2	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial disease (MONDO:0044970), MT-TS2-related Tags mtDNA
Green Green List (high evidence)	MT-TV	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial disease (MONDO:0044970), MT-TV-related Tags mtDNA
Green Green List (high evidence)	MT-TW	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial disease (MONDO:0044970), MT-TW-related Tags mtDNA
Green Green List (high evidence)	MTO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 10 MIM#614702 Tags
Green Green List (high evidence)	MYBPC3	3 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, hypertrophic, 4, MIM# 115197 Tags
Green Green List (high evidence)	MYH7	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, hypertrophic, 1, MIM# 192600 Cardiomyopathy, dilated, 1S, MIM# 613426 Tags
Green Green List (high evidence)	MYL2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, MIM# 619424 Cardiomyopathy, hypertrophic, 10, MIM# 608758 Tags
Green Green List (high evidence)	MYL3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, hypertrophic, 8, MIM# 608751 Tags
Green Green List (high evidence)	NAA10	1 review 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 Review Green Literature Phenotypes NAA10-related syndrome, MONDO:0100124 Tags
Green Green List (high evidence)	NAGLU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920 Tags
Green Green List (high evidence)	NDUFA10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 22, MIM# 618243 Tags
Green Green List (high evidence)	NDUFAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes mitochondrial complex I deficiency, nuclear type 11, MONDO:0032617 Tags
Green Green List (high evidence)	NDUFB11	1 review 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 Review Green MetBioNet NHS GMS Phenotypes Linear skin defects with multiple congenital anomalies 3, 300952 ?Mitochondrial complex I deficiency, nuclear type 30, 301021 Tags
Green Green List (high evidence)	NDUFS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes mitochondrial complex I deficiency, nuclear type 6, MONDO:0032611 Tags
Green Green List (high evidence)	NDUFS4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 1, MIM#252010 Tags
Green Green List (high evidence)	NDUFS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes mitochondrial complex I deficiency, nuclear type 2, MONDO:0032606 Tags
Green Green List (high evidence)	NDUFV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 4 MIM#618225 Tags
Green Green List (high evidence)	NDUFV2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 7, MIM#618229 Tags
Green Green List (high evidence)	NEXN	2 reviews 2 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS South West GLH Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 2M, autosomal recessive, MIM# 621261 Cardiomyopathy, familial hypertrophic, 20, Cardiomyopathy, dilated, 1CC Tags
Green Green List (high evidence)	NKX2-5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green London South GLH NHS GMS Phenotypes NKX2.5-related congenital, conduction and myopathic heart disease, MONDO:0800441 Tags
Green Green List (high evidence)	NONO	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Phenotypes syndromic X-linked intellectual disability 34, MONDO:0010501 Tags
Green Green List (high evidence)	NRAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomopathy, dilated, 2N, MIM# 621595 Tags
Green Green List (high evidence)	NRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Noonan syndrome 6, MIM# 613224 Tags
Green Green List (high evidence)	PCCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes propionic acidemia, MONDO:0011628 Tags
Green Green List (high evidence)	PCCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes propionic acidemia, MONDO:0011628 Tags treatable
Green Green List (high evidence)	PGM1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Congenital disorder of glycosylation, type It, MIM# 614921 Dilated cardiomyopathy Tags treatable
Green Green List (high evidence)	PKP2	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Dilated cardiomyopathy, MONDO:0005021, PKP2-related Arrhythmogenic right ventricular dysplasia 9 Arrhythmogenic right ventricular cardiomyopathy Tags
Green Green List (high evidence)	PLD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiac valvular defect, developmental, MIM# 212093 neonatal cardiomyopathy Tags founder
Green Green List (high evidence)	PLN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1P, MIM# 609909 Cardiomyopathy, hypertrophic, 18, MIM# 613874 Tags
Green Green List (high evidence)	PMM2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Ia, MIM# 212065 hypotonia intellectual disability cerebellar signs pericarditis cardiomyopathy cardiac malformation chronic diarrhoea protein-losing enteropathy ascites cover failure nephrotic syndrome hydros Tags
Green Green List (high evidence)	PPA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS Phenotypes Sudden cardiac failure, alcohol-induced, 617223 Sudden cardiac failure, infantile, 617222 Tags
Green Green List (high evidence)	PPCS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Cardiomyopathy, dilated, 2C, 618189 Tags
Green Green List (high evidence)	PPP1R13L	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Arrhythmogenic cardiomyopathy with or without ectodermal abnormalities, MIM#620519 Tags
Green Green List (high evidence)	PRDM16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Cardiomyopathy, dilated, 1LL MIM#615373 Left ventricular noncompaction 8 MIM#615373 Tags
Green Green List (high evidence)	PRKAG2	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLHSouth West GLH NHS GMS Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, hypertrophic 6, MIM# 600858 Glycogen storage disease of heart, lethal congenital, MIM# 261740 Tags
Green Green List (high evidence)	PTPN11	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Noonan syndrome 1, MIM# 163950 Tags
Green Green List (high evidence)	QRSL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Combined oxidative phosphorylation deficiency 40, MIM#618835 Tags
Green Green List (high evidence)	RAF1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1NN, MIM# 615916 Noonan syndrome 5, MIM# 611553 Tags
Green Green List (high evidence)	RBCK1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Tags
Green Green List (high evidence)	RBM10	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes TARP syndrome, MONDO:0010711 Tags
Green Green List (high evidence)	RBM20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1DD, MIM#613172 Tags
Green Green List (high evidence)	RIT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Noonan syndrome 8, MONDO:0014143 Tags
Green Green List (high evidence)	RNF220	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688 Leukodystrophy CNS hypomyelination Ataxia Intellectual disability Sensorineural hearing impairment Elevated hepatic transaminases Hepatic fibrosis Dilated cardiomyopathy Spastic paraplegia Dysarthria Abnormality of the corpus callosum Tags founder
Green Green List (high evidence)	RPL3L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cardiomyopathy, dilated, 2D, MIM# 619371 Neonatal dilated cardiomyopathy Tags
Green Green List (high evidence)	RRAGC	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Long-Olsen syndrome, MIM# 620609 Tags
Green Green List (high evidence)	RRAGD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Inherited renal tubular disease, MONDO:0015962, RRAGD-related dilated cardiomyopathy hypomagnesaemia renal salt-wasting nephrocalcinosis Tags
Green Green List (high evidence)	SCN5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS South West GLH Phenotypes dilated cardiomyopathy 1E MONDO:0011003 arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587 Tags
Green Green List (high evidence)	SCO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, MONDO:0011451 Tags
Green Green List (high evidence)	SDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Mitochondrial complex II deficiency, nuclear type 1, MIM# 252011 Cardiomyopathy, dilated, 1GG, MIM# 613642 Tags
Green Green List (high evidence)	SGCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287 Tags
Green Green List (high evidence)	SHMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB), MIM#619121 Congenital microcephaly Infantile axial hypotonia Spastic paraparesis Global developmental delay Intellectual disability Abnormality of the corpus callosum Abnormal cortical gyration Hypertrophic cardiomyopathy Abnormality of the face Proximal placement of thumb 2-3 toe syndactyly Tags
Green Green List (high evidence)	SHOC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Noonan syndrome-like disorder with loose anagen hair, MONDO:0011899 Tags
Green Green List (high evidence)	SLC22A5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes Carnitine deficiency, systemic primary MIM#212140 Tags treatable
Green Green List (high evidence)	SLC25A20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS South West GLH Phenotypes carnitine-acylcarnitine translocase deficiency, MONDO:0008918 Tags treatable
Green Green List (high evidence)	SLC25A4	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions Hypertrophic cardiomyopathy Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type), 615418 Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) Disorders of mitochondrial DNA maintenance and integrity Disorders of mitochondrial protein transport Progressive external ophthalmoplegia with mitochondrial DNA deletions 3, 609283 Tags
Green Green List (high evidence)	SMAD4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Myhre syndrome, MONDO:0007688 Tags
Green Green List (high evidence)	SOS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Noonan syndrome 4, MIM# 610733 Tags
Green Green List (high evidence)	SPEG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy centronuclear myopathy Tags
Green Green List (high evidence)	SUCLG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes mitochondrial DNA depletion syndrome 9, MONDO:0009504 Tags
Green Green List (high evidence)	TAB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS Phenotypes Mitral valve disease, cardiomyopathy, short stature and hypermobility, Noonan syndrome-like Congenital heart defects, nonsyndromic, 2 (MIM#614980) Tags
Green Green List (high evidence)	TAFAZZIN	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green London South GLH MetBioNet NHS GMS South West GLH Phenotypes Barth syndrome, MIM# 302060 Tags
Green Green List (high evidence)	TANGO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MIM#616878 Tags
Green Green List (high evidence)	TBX20	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dilated cardiomyopathy, MONDO:0005021, TBX20-related Tags
Green Green List (high evidence)	TBX5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Holt-Oram syndrome, MIM# 142900 Dilated cardiomyopathy Tags
Green Green List (high evidence)	TMEM126B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 29, MIM# 618250 Tags
Green Green List (high evidence)	TMEM43	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 5, MIM#604400 Tags
Green Green List (high evidence)	TMEM70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green MetBioNet NHS GMS Phenotypes mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, MONDO:0013546 Tags
Green Green List (high evidence)	TNNC1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1Z, MIM# 611879 Cardiomyopathy, hypertrophic, 13, MIM# 613243 Tags
Green Green List (high evidence)	TNNI3	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1FF, MIM#613286 Cardiomyopathy, hypertrophic, 7, MIM# 613690 Cardiomyopathy, familial restrictive, MIM#1115210 Tags
Green Green List (high evidence)	TNNI3K	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green NHS GMS Phenotypes cardiac conduction disease with or without dilated cardiomyopathy 1, MONDO:0700388 Tags
Green Green List (high evidence)	TNNT2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1D MIM#601494 Cardiomyopathy, hypertrophic, 2, MIM# 115195 Tags
Green Green List (high evidence)	TOR1AIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072 Autosomal recessive limb-girdle muscular dystrophy type 2Y, MONDO:0014900 Tags
Green Green List (high evidence)	TPM1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1Y, MIM# 611878 Tags
Green Green List (high evidence)	TREX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Aicardi-Goutieres syndrome 1, dominant and recessive MIM#225750 Tags
Green Green List (high evidence)	TRIM37	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes mulibrey nanism, MONDO:0009664 Tags
Green Green List (high evidence)	TSFM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS South West GLH Phenotypes Combined oxidative phosphorylation deficiency 3, MIM# 610505 Tags
Green Green List (high evidence)	TTN	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Dilated cardiomyopathy 1G, MONDO:0011400 Hypertrophic cardiomyopathy, MONDO:0005045 Tags
Green Green List (high evidence)	TTR	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Phenotypes Amyloidosis, hereditary systemic 1, MIM# 105210 Tags
Green Green List (high evidence)	UQCRFS1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex III deficiency, nuclear type 10, MIM# 618775 cardiomyopathy thrombocytopenia hypotonia Tags
Green Green List (high evidence)	VARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes combined oxidative phosphorylation defect type 20, MONDO:0014397 Tags
Green Green List (high evidence)	VCL	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS South West GLH Victorian Clinical Genetics Services Phenotypes Cardiomyopathy, dilated, 1W, MIM# 611407 Tags
Amber Amber List (moderate evidence)	ALG3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes ALG3-congenital disorder of glycosylation, MONDO:0010998 Tags
Amber Amber List (moderate evidence)	ATP5PO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, MONDO:0957255 Tags new gene name
Amber Amber List (moderate evidence)	CACNA1C	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber NHS GMS Phenotypes Hypertrophic cardiomyopathy, MONDO:0005045, CACNA1C-related Tags
Amber Amber List (moderate evidence)	CDH2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920 Tags
Amber Amber List (moderate evidence)	COX10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes mitochondrial complex IV deficiency, nuclear type 3, MONDO:0033635 Tags
Amber Amber List (moderate evidence)	COX14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 10, MIM# 619053 Tags
Amber Amber List (moderate evidence)	COX6B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 7, MIM# 619051 Tags
Amber Amber List (moderate evidence)	CRLS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Combined oxidative phosphorylation deficiency 57, MIM# 620167 Tags
Amber Amber List (moderate evidence)	DPM3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes DPM3-congenital disorder of glycosylation, MONDO:0013049 Tags
Amber Amber List (moderate evidence)	DSC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS South West GLH Phenotypes familial isolated arrhythmogenic right ventricular dysplasia, MONDO:0016342 Tags
Amber Amber List (moderate evidence)	ETFDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282 Tags
Amber Amber List (moderate evidence)	EYA4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber London South GLH NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1J, MIM# 605362 Tags
Amber Amber List (moderate evidence)	FHL2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Cardiomyopathy, MONDO:0004994, FHL2-related Tags
Amber Amber List (moderate evidence)	FOXRED1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 19, MIM# 618241 Tags
Amber Amber List (moderate evidence)	GLA	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Expert Review Green London South GLH MetBioNet NHS GMS South West GLH Victorian Clinical Genetics Services Phenotypes Fabry disease, cardiac variant, 301500 Fabry disease (Sphingolipidoses) Fabry disease, 301500 Fabry Disease HCM syndromic HCM Limb pain, angiokeratom Fabry disease HCM is a late complication in adults, also found in female carriers Tags
Amber Amber List (moderate evidence)	HFE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Haemochromatosis, type 1, MIM# 235200 Tags
Amber Amber List (moderate evidence)	HGSNAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930 Tags
Amber Amber List (moderate evidence)	ITPA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes inosine triphosphatase deficiency, MONDO:0013461 Tags
Amber Amber List (moderate evidence)	JPH2	3 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Cardiomyopathy, hypertrophic, MIM#613873 Cardiomyopathy, dilated, 2E, MIM# 619492 Tags
Amber Amber List (moderate evidence)	KGD4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Leigh syndrome - MONDO:0009723, MRPS36/KGD4-related Tags
Amber Amber List (moderate evidence)	MCM10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Immunodeficiency-80 with or without congenital cardiomyopathy (IMD80), MIM#619313 Restrictive cardiomyopathy Tags
Amber Amber List (moderate evidence)	MMUT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS South West GLH Phenotypes methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, MONDO:0009612 Tags treatable
Amber Amber List (moderate evidence)	MT-ND6	1 review	MITOCHONDRIAL	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease (MONDO:0044970), MT-ND6-related Tags
Amber Amber List (moderate evidence)	MYLK3	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes dilated cardiomyopathy, MONDO:0005021, MYLK3-related Tags
Amber Amber List (moderate evidence)	MYPN	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature NHS GMS South West GLH Phenotypes Congenital myopathy 24, MIM# 617336 Cardiomyopathy, dilated, 1KK, MIM# 615248 Cardiomyopathy, hypertrophic, 22, MIM# 615248 Tags
Amber Amber List (moderate evidence)	NAA15	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Phenotypes Mental retardation, autosomal dominant 50, MIM# 617787 cardiomyopathy Tags
Amber Amber List (moderate evidence)	NDUFA11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 14, 618236 Tags
Amber Amber List (moderate evidence)	NDUFA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 13, MIM# 618235 Tags
Amber Amber List (moderate evidence)	NDUFA5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease, MONDO:0044970, NDUFA5-related Tags
Amber Amber List (moderate evidence)	NDUFAF4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 15, 618237 Tags
Amber Amber List (moderate evidence)	NDUFB7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Mitochondrial complex I deficiency nuclear type 39 (MC1DN39), MIM#620135 Tags
Amber Amber List (moderate evidence)	NDUFB8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 32, MIM# 618252 Tags
Amber Amber List (moderate evidence)	NEK8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Renal-hepatic-pancreatic dysplasia 2 MIM#615415 Tags
Amber Amber List (moderate evidence)	PIGA	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868 Tags
Amber Amber List (moderate evidence)	PLEKHM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes dilated cardiomyopathy, MONDO:0005021, PLEKHM2-related Tags
Amber Amber List (moderate evidence)	POPDC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367 Tags
Amber Amber List (moderate evidence)	PPP1CB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Amber London South GLH NHS GMS Phenotypes Noonan syndrome-like disorder with loose anagen hair 2, MIM#617506 Tags
Amber Amber List (moderate evidence)	RASA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber London South GLH NHS GMS Phenotypes Noonan syndrome MONDO:0018997, RASA2-related Tags
Amber Amber List (moderate evidence)	RHBDF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dilated cardiomyopathy Tags
Amber Amber List (moderate evidence)	SCO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 4, MIM# 619048 Tags
Amber Amber List (moderate evidence)	SDHD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial respiratory chain complex II deficiency, 252011 Tags
Amber Amber List (moderate evidence)	SGSH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A) MIM#252900 Tags
Amber Amber List (moderate evidence)	SLC30A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cardiomyopathy MONDO:0004994, SLC30A5-related Perinatal lethal cardiomyopathy Tags
Amber Amber List (moderate evidence)	SLC6A8	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Cerebral creatine deficiency syndrome 1 MIM#300352 Tags
Amber Amber List (moderate evidence)	SOS2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert List Expert Review Amber London South GLH NHS GMS Phenotypes Noonan syndrome 9, MIM# 616559 Tags
Amber Amber List (moderate evidence)	SPRED2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Noonan syndrome 14, MIM# 619745 Tags
Amber Amber List (moderate evidence)	STX4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Deafness, autosomal recessive 123, MIM# 620745 Tags
Amber Amber List (moderate evidence)	TKFC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Triokinase and FMN cyclase deficiency syndrome, MIM#618805 Tags
Amber Amber List (moderate evidence)	TRMT5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes combined oxidative phosphorylation defect type 26, MONDO:0014684 Tags
Amber Amber List (moderate evidence)	UQCRB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 3, 615158 Tags
Amber Amber List (moderate evidence)	WDR59	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Syndromic disease, MONDO:0002254 Tags founder
Red Red List (low evidence)	ANK2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes Cardiac arrhythmia, ankyrin-B-related MIM#600919 Long QT syndrome 4 MIM#600919 Tags disputed
Red Red List (low evidence)	ANKRD1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London South GLH NHS GMS South West GLH Phenotypes dilated cardiomyopathy MONDO:0005021 hypertrophic cardiomyopathy MONDO:0005045 Tags
Red Red List (low evidence)	ATP5F1D	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex V (ATP synthase) deficiency, 618120 Tags
Red Red List (low evidence)	ATPAF2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes ?Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1, 604273 Tags
Red Red List (low evidence)	B3GAT3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red London South GLH NHS GMS Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600 Tags
Red Red List (low evidence)	BCS1L	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes mitochondrial complex III deficiency nuclear type 1, MONDO:0007415 Tags
Red Red List (low evidence)	COA5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Phenotypes Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3, MIM# 616500 Tags
Red Red List (low evidence)	COA8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 17, MIM# 619061 Tags
Red Red List (low evidence)	COX20	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 11, MIM# 619054 Tags
Red Red List (low evidence)	COX7B	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Linear skin defects with multiple congenital anomalies 2, 300887 Tags
Red Red List (low evidence)	COXFA4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 21, MIM#619065 Tags
Red Red List (low evidence)	CRYAB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS South West GLH Phenotypes Cardiomyopathy, dilated, 1II, MIM# 615184 Tags
Red Red List (low evidence)	CTF1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS South West GLH Phenotypes dilated cardiomyopathy MONDO:0005021, CTF1-related Tags
Red Red List (low evidence)	CYC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 6, MIM# 615453 Tags
Red Red List (low evidence)	DTNA	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London South GLH NHS GMS South West GLH Phenotypes Left ventricular noncompaction 1, with or without congenital heart defects, MIM# 604169 Tags
Red Red List (low evidence)	ETFA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II) Glutaric acidemia IIA Electron transfer flavoprotein deficiency, alpha chain (Disorders of mitochondrial fatty acid oxidation) HCM Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia Tags
Red Red List (low evidence)	ETFB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Multiple acyl-CoA dehydrogenase deficiency (MADD) (glutaric aciduria type II) HCM Glutaric acidemia IIB Facial and cerebral malformations, cystic renal disease, liver disease, hypoketotic hypoglycaemia Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation) Tags
Red Red List (low evidence)	FASTKD2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes FASTKD2-related infantile mitochondrial encephalomyopathy, MONDO:0015632 Tags
Red Red List (low evidence)	FKRP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Phenotypes autosomal recessive limb-girdle muscular dystrophy type 2I, MONDO:0011787 Tags
Red Red List (low evidence)	GALNS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mucopolysaccharidosis Type IVA MPS IVA, Morquio A disease (MPS IV, Morquio disease) MUCOPOLYSACCHARIDOSIS TYPE 4A Mucopolysaccharidosis, Type IV Mucopolysaccharidosis IVA, 253000 Tags
Red Red List (low evidence)	GATA6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS Phenotypes dilated cardiomyopathy, MONDO:0005021, GATA6-related Tags
Red Red List (low evidence)	GET3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Dilated cardiomyopathy, MONDO:0001644, ASNA1-related Tags new gene name
Red Red List (low evidence)	GLRA1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red London South GLH NHS GMS Phenotypes Hyperekplexia, hereditary 1, 149400 Tags
Red Red List (low evidence)	GNS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mucopolysaccharidosis type IIID, 252940 Mucopolysaccharidosis Type III Mucopolysaccharidosis Type IIID Mucopolysaccharidosis, Type III MPS IIID, Sanfilippo D disease (Mucopolysaccharidoses) Tags
Red Red List (low evidence)	GSN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Amyloidosis, Finnish type, MIM# 105120 Tags
Red Red List (low evidence)	ILK	0 reviews	Unknown	Sources Expert Review Red NHS GMS South West GLH Tags
Red Red List (low evidence)	KIF20A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Cardiomyopathy, familial restrictive, 6, MIM# 619433 Tags
Red Red List (low evidence)	LAMA4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS South West GLH Phenotypes dilated cardiomyopathy 1JJ, MONDO:0014095 Tags
Red Red List (low evidence)	LYRM7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 8, 615838 Tags
Red Red List (low evidence)	MIB1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London South GLH NHS GMS South West GLH Phenotypes Left ventricular noncompaction 7, MIM# 615092 cardiomyopathy Tags
Red Red List (low evidence)	MRPS14	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Combined oxidative phosphorylation deficiency 38, MIM# 618378 hypertrophic cardiomyopathy growth retardation hypotonia intellectual disability Tags
Red Red List (low evidence)	MYH6	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London South GLH NHS GMS South West GLH Phenotypes dilated cardiomyopathy 1EE MONDO:0013198 hypertrophic cardiomyopathy MONDO:0005045 Tags
Red Red List (low evidence)	MYO19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hypertrophic cardiomyopathy MONDO:0005045, MYO19-related Tags
Red Red List (low evidence)	NDUFA1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 12, MIM# 301020 Tags
Red Red List (low evidence)	NDUFA6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 33, 618253 Tags
Red Red List (low evidence)	NDUFA9	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 26, 618247 Tags
Red Red List (low evidence)	NDUFAF2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 10, MIM# 618233 Tags
Red Red List (low evidence)	NDUFAF3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 18, MIM# 618240 Tags
Red Red List (low evidence)	NDUFAF5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 16, MIM# 618238 Tags
Red Red List (low evidence)	NDUFAF6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Victorian Clinical Genetics Services Phenotypes Mitochondrial complex I deficiency, nuclear type 17, 612392 Tags
Red Red List (low evidence)	NDUFAF8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes No OMIM phenotype Tags
Red Red List (low evidence)	NDUFB3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 25, MIM# 618246 Tags
Red Red List (low evidence)	NDUFS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 5, MIM# 618226 Tags
Red Red List (low evidence)	NDUFS3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 8, MIM# 618230 Tags
Red Red List (low evidence)	NDUFS6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 9, MIM# 618232 Tags
Red Red List (low evidence)	NDUFS7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 3, MIM# 618224 Tags
Red Red List (low evidence)	NEBL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Red Literature NHS GMS South West GLH Tags
Red Red List (low evidence)	NF1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Red London South GLH NHS GMS Phenotypes neurofibromatosis type 1, MONDO:0018975 Tags
Red Red List (low evidence)	NUBPL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex I deficiency, nuclear type 21, MIM# 618242 Tags
Red Red List (low evidence)	PDLIM3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Literature NHS GMS South West GLH Phenotypes Hypertrophic cardiomyopathy Tags
Red Red List (low evidence)	PET100	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 12, MIM# 619055 Tags
Red Red List (low evidence)	PNPLA2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS South West GLH Phenotypes neutral lipid storage myopathy, MONDO:0012545 Tags
Red Red List (low evidence)	RYR2	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature NHS GMS South West GLH Phenotypes dilated cardiomyopathy MONDO:0005021 hypertrophic cardiomyopathy MONDO:0005045 arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 Tags
Red Red List (low evidence)	SDHAF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex II deficiency, nuclear type 2, MIM# 619166 Tags
Red Red List (low evidence)	SPRED1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Red NHS GMS Phenotypes Legius syndrome 611431 Tags
Red Red List (low evidence)	SURF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, nuclear type 1, MIM# 220110 Tags
Red Red List (low evidence)	TACO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex IV deficiency, 220110 Tags
Red Red List (low evidence)	TCAP	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS South West GLH Victorian Clinical Genetics Services Phenotypes Congenital muscular dystrophies Cardiomyopathy, dilated, 1N Tags
Red Red List (low evidence)	TGFB3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red London South GLH NHS GMS South West GLH Phenotypes Arrhythmogenic right ventricular dysplasia 1 Tags
Red Red List (low evidence)	TMPO	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS South West GLH Phenotypes Dilated Cardiomyopathy, Dominant Tags refuted
Red Red List (low evidence)	TTC19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags
Red Red List (low evidence)	UQCC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red MetBioNet NHS GMS Phenotypes Mitochondrial complex III deficiency, nuclear type 7, MIM# 615824 Tags

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