PanelApp
  1. Panels
  2. Cardiomyopathy_Adult_SuperPanel
Description
This panel combines the DCM, HCM and ARVC panels. For paediatric patients, please use the Cardiomyopathy_Paediatric in addition to this panel.

136 Entities

136 reviewed, 72 green

List Entity Reviews Mode of inheritance Details
136 Entitiess
Green Green List (high evidence)
ACTC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1R, MIM# 613424
Tags
  • for review
Green Green List (high evidence)
ACTC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 11 612098
Tags
Green Green List (high evidence)
ACTN2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, hypertrophic, 23, with or without LVNC, MIM# 612158
  • ACTN2-related cardiac and skeletal myopathy, MONDO:0700349
Tags
Green Green List (high evidence)
ACTN2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, 1AA, with or without LVNC, MIM# 612158
  • ACTN2-related cardiac and skeletal myopathy, MONDO:0700349
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
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, familial hypertrophic 27, MIM# 618052
Tags
Green Green List (high evidence)
ALPK3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, familial hypertrophic 27, MIM# 618052
Tags
Green Green List (high evidence)
BAG3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1HH, MIM# 613881
  • MONDO:0013479
Tags
Green Green List (high evidence)
BAG5
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiomyopathy, dilated, 2F, MIM# 619747
Tags
Green Green List (high evidence)
C10orf71
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Cardiomyopathy, dilated, 1QQ, MIM# 621251
Tags
Green Green List (high evidence)
CACNA1C
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypertrophic cardiomyopathy, MONDO:0005045, CACNA1C-related
Tags
Green Green List (high evidence)
CAP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cardiomyopathy, dilated, 2I (MIM#620462)
Tags
Green Green List (high evidence)
CSRP3
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 12, MIM# 612124
Tags
Green Green List (high evidence)
DES
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Desminopathy
Tags
Green Green List (high evidence)
DES
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • ClinGen
  • Expert Review Green
Phenotypes
  • Cardiomyopathy, dilated, 1I, MIM# 604765
  • MONDO:0011482
Tags
Green Green List (high evidence)
DES
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587
Tags
  • for review
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
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 3B (MIM#302045)
Tags
Green Green List (high evidence)
DSC2
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11, MIM# 610476
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476
Tags
Green Green List (high evidence)
DSG2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 10, MIM# 610193
Tags
Green Green List (high evidence)
DSP
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821
  • Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676
Tags
Green Green List (high evidence)
DSP
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 8, MIM# 607450
  • Carvajal syndrome
Tags
Green Green List (high evidence)
FHL1
1 review
1 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
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, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 28, MIM# 619402
Tags
  • SV/CNV
Green Green List (high evidence)
FKRP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155
Tags
Green Green List (high evidence)
FLNC
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Green Green List (high evidence)
FLNC
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 26
Tags
Green Green List (high evidence)
FLNC
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Dilated cardiomyopathy
Tags
Green Green List (high evidence)
FXN
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Friedreich ataxia MIM#229300
Tags
Green Green List (high 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 Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Fabry disease (MIM# 301500)
Tags
Green Green List (high evidence)
JPH2
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, MIM#613873
Tags
Green Green List (high evidence)
JPH2
2 reviews
1 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiomyopathy, dilated, 2E, MIM# 619492
Tags
  • founder
Green Green List (high evidence)
JUP
3 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 12 MIM# 611528
  • Naxos disease MIM# 601214
Tags
Green Green List (high evidence)
KLHL24
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236
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
  • Victorian Clinical Genetics Services
Phenotypes
  • Danon disease (MIM#300257)
Tags
Green Green List (high evidence)
LAMP2
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
  • Victorian Clinical Genetics Services
Phenotypes
  • Danon disease, MIM#300257
Tags
Green Green List (high evidence)
LMNA
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1A, MIM# 115200
Tags
Green Green List (high evidence)
MT-TI
2 reviews
 MITOCHONDRIAL
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
Tags
  • mtDNA
Green Green List (high evidence)
MYBPC3
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1MM, 615396
  • Cardiomyopathy, hypertrophic, 4, 115197
  • Left ventricular noncompaction 10, 615396
Tags
Green Green List (high evidence)
MYH7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 1, MIM# 192600
Tags
Green Green List (high evidence)
MYH7
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1S, MIM# 613426
  • MONDO:0013262
Tags
Green Green List (high evidence)
MYL2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 10, MIM# 608758
Tags
Green Green List (high evidence)
MYL3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 8, MIM# 608751
Tags
Green Green List (high evidence)
MYZAP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiomyopathy, dilated, 2K, MIM# 620894
Tags
Green Green List (high evidence)
NEXN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1CC, MIM# 613122
Tags
  • for review
Green Green List (high evidence)
NKX2-5
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dilated cardiomyopathy
Tags
Green Green List (high evidence)
PKP2
3 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 9 (MIM#609040)
  • Dilated cardiomyopathy, MONDO:0005021, PKP2-related
  • hypoplastic left heart syndrome
  • hydrops fetalis
  • ventricular septal defect
  • left ventricular non-compaction
Tags
Green Green List (high evidence)
PKP2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 9, MIM# 609040
Tags
Green Green List (high evidence)
PLN
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1P, MIM# 609909
Tags
Green Green List (high evidence)
PLN
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 18 (MIM #613874)
Tags
Green Green List (high evidence)
PRDM16
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiomyopathy, dilated, 1LL MIM#615373
  • Left ventricular noncompaction 8 MIM#615373
Tags
  • SV/CNV
Green Green List (high evidence)
PRKAG2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic 6, MIM# 600858
Tags
Green Green List (high evidence)
PTPN11
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Noonan syndrome 1 MIM# 163950
Tags
Green Green List (high evidence)
RAF1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1NN MIM#615916
  • Noonan syndrome 5 MIM#611553
Tags
Green Green List (high evidence)
RBM20
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1DD 613172 AD
Tags
Green Green List (high evidence)
RIT1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • ClinGen
Phenotypes
  • Noonan syndrome MONDO:0018997
Tags
Green Green List (high evidence)
SCN5A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1E, MIM# 601154
Tags
Green Green List (high evidence)
SLC25A4
2 reviews
1 green 1 red 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD MIM#617184
  • Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR MIM#615418
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 MIM#609283
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 Green
  • Literature
Phenotypes
  • Holt-Oram syndrome, MIM# 142900
  • Dilated cardiomyopathy
Tags
Green Green List (high evidence)
TMEM43
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 5, MIM# 604400
Tags
  • founder
Green Green List (high evidence)
TNNC1
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 13 (MIM# 613243)
Tags
Green Green List (high evidence)
TNNC1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1Z, MIM# 611879
  • MONDO:0012745
Tags
Green Green List (high evidence)
TNNI3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1FF, MIM#613286
Tags
  • for review
Green Green List (high evidence)
TNNI3
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 7, MIM# 613690
Tags
Green Green List (high evidence)
TNNI3K
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117
Tags
Green Green List (high evidence)
TNNT2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1D, MIM# 601494
Tags
Green Green List (high evidence)
TNNT2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 2, MIM# 115195
Tags
Green Green List (high evidence)
TPM1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1Y, 611878
  • Cardiomyopathy, hypertrophic, 3, 115196
  • Left ventricular noncompaction 9, 611878
Tags
Green Green List (high evidence)
TPM1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1Y, MIM# 611878
Tags
  • for review
Green Green List (high evidence)
TRIM63
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiomyopathy, familial hypertrophic, 31, MIM# 621270
Tags
Green Green List (high evidence)
TTN
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1G, MIM#604145
Tags
Green Green List (high evidence)
TTR
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyloidosis, hereditary, transthyretin-related MIM#105210
Tags
  • treatable
Green Green List (high evidence)
VCL
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1W, MIM# 611407
Tags
Amber Amber List (moderate evidence)
CDH2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920
Tags
Amber Amber List (moderate evidence)
CTNNA3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Other
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
  • Arrhythmogenic right ventricular dysplasia, familial, 13 MIM#615616
Tags
Amber Amber List (moderate evidence)
DOLK
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Congenital disorder of glycosylation, type Im MIM#610768
Tags
Amber Amber List (moderate evidence)
DSG2
2 reviews
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia, 10, 610193
  • Cardiomyopathy, dilated, 1BB, 612877
Tags
Amber Amber List (moderate evidence)
EMD
1 review
 X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
Tags
Amber Amber List (moderate evidence)
FKTN
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Cardiomyopathy, dilated, 1X MIM#611615
Tags
  • SV/CNV
Amber Amber List (moderate evidence)
GATA6
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dilated cardiomyopathy
Tags
Amber Amber List (moderate evidence)
GYG1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Hypertrophic Cardiomyopathy
Tags
Amber Amber List (moderate evidence)
JUP
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 12 (MIM#611528)
  • Naxos disease, MIM# 601214
Tags
Amber Amber List (moderate evidence)
KBTBD13
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Intrinsic cardiomyopathy MONDO:0000591
Tags
Amber Amber List (moderate evidence)
LDB3
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493
Tags
Amber Amber List (moderate evidence)
LEMD2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587
Tags
  • founder
Amber Amber List (moderate evidence)
LMNA
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Cardiomyopathy, dilated, 1A, MIM# 115200
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Amber Amber List (moderate evidence)
NEBL
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
  • dilated cardiomyopathy
Tags
Amber Amber List (moderate evidence)
NEBL
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
  • dilated cardiomyopathy
Tags
Amber Amber List (moderate evidence)
PLEKHM2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Dilated cardiomyopathy MONDO:0005021
Tags
Amber Amber List (moderate evidence)
PLN
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
  • founder
Amber Amber List (moderate evidence)
POPDC2
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy MONDO:0005045, POPDC2-related
Tags
Amber Amber List (moderate evidence)
RPS6KB1
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy, MONDO:0005045, RPS6KB1-related
Tags
Amber Amber List (moderate evidence)
SLC6A6
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350
  • Early retinal degeneration
  • cardiomyopathy
Tags
Amber Amber List (moderate evidence)
TAX1BP3
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Familial cardiomyopathy, MONDO:0005217, TAX1BP3-related
  • arrhythmogenic cardiomyopathy
Tags
Amber Amber List (moderate evidence)
TMEM43
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 5 (MIM# 604400)
Tags
Amber Amber List (moderate evidence)
TTN
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypertrophic cardiomyopathy
Tags
Amber Amber List (moderate evidence)
TULP3
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Hepatorenocardiac degenerative fibrosis, MIM# 619902
Tags
Red Red List (low evidence)
ANKRD1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
ANKRD1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • hypertrophic cardiomyopathy
Tags
Red Red List (low evidence)
BMP10
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Dilated cardiomyopathy MONDO:0005021
Tags
Red Red List (low evidence)
BVES
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 25 616812
Tags
Red Red List (low evidence)
C1QBP
3 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 33, MIM#617713
Tags
Red Red List (low evidence)
CALR3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypertrophic cardiomyopathy
Tags
  • refuted
Red Red List (low evidence)
CAV3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, familial hypertrophic, MIM# 192600
Tags
Red Red List (low evidence)
CDH2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Arrhythmogenic right ventricular dysplasia, familial, 14 MIM#618920
Tags
Red Red List (low evidence)
CHRM2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert Review
Phenotypes
  • Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related
Tags
Red Red List (low evidence)
CORIN
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • ?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734)
Tags
Red Red List (low evidence)
CRYAB
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1II, MIM#615184
Tags
Red Red List (low evidence)
CSRP3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1M MIM#607482
Tags
  • disputed
Red Red List (low evidence)
DNAJB4
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Myopathy, MONDO:0005336, DNAJB4-related
Tags
Red Red List (low evidence)
DSC2
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11 with or without mild palmoplantar keratoderma and woolly hair MIM#610476
Tags
Red Red List (low evidence)
ETS1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Familial dilated cardiomyopathy, MONDO:0016333, ETS1-related
Tags
Red Red List (low evidence)
GAA
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Glycogen storage disease II, MIM#232300
Tags
Red Red List (low evidence)
ILK
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
KLF10
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • HCM
Tags
Red Red List (low evidence)
LAMA4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1JJ (MIM#615235)
Tags
  • disputed
Red Red List (low evidence)
MYBPC3
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, dilated, 1MM, MIM#615396
Tags
Red Red List (low evidence)
MYH6
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypertrophic cardiomyopathy
Tags
Red Red List (low evidence)
MYLK2
2 reviews
2 red 		Other
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 1, digenic, 192600
Tags
Red Red List (low evidence)
MYOM1
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypertrophic cardiomyopathy, MONDO:0005045
Tags
Red Red List (low evidence)
MYOZ2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 16 MIM#613838
Tags
Red Red List (low evidence)
MYPN
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Cardiomyopathy, hypertrophic, 22 (MIM# 615248)
Tags
Red Red List (low evidence)
NEXN
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 20, MIM# 613876
Tags
Red Red List (low evidence)
OBSCN
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
Tags
Red Red List (low evidence)
PDLIM3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
Tags
Red Red List (low evidence)
PHLPP2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy MONDO:0005045, PHLPP2-related
Tags
Red Red List (low evidence)
PPCS
3 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Cardiomyopathy, dilated, 2C, MIM# 618189
Tags
Red Red List (low evidence)
RYR2
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy
Tags
Red Red List (low evidence)
RYR2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2, MIM# 600996
Tags
  • refuted
Red Red List (low evidence)
SOD2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Dilated cardiomyopathy MONDO:0005021, lethal neonatal, SOD2-related
Tags
Red Red List (low evidence)
TAZ
2 reviews
1 red 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Barth syndrome (MIM# 302060)
Tags
Red Red List (low evidence)
TCAP
2 reviews
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM# 601954)
  • Cardiomyopathy, hypertrophic, 25 (MIM# 607487)
Tags
Red Red List (low evidence)
TCAP
3 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 25, MIM# 607487
Tags
  • disputed
Red Red List (low evidence)
TGFB3
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 1, MIM# 107970
Tags
  • 5'UTR
Red Red List (low evidence)
TTL
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Hypertrophic cardiomyopathy, MONDO:0005045, TTL-related
Tags
Red Red List (low evidence)
UQCRFS1
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Mitochondrial Complex III deficiency
  • lactic acidosis
  • fetal bradycardia
  • hypertrophic cardiomyopathy
  • alopecia totalis
Tags
Red Red List (low evidence)
VCL
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Cardiomyopathy, hypertrophic, 15, MIM# 613255
Tags

Downloads

Download lists

Download Version