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| Arrhythmogenic Cardiomyopathy v0.68 | KBTBD13 | Zornitza Stark Marked gene: KBTBD13 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.68 | KBTBD13 | Zornitza Stark Gene: kbtbd13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.68 | KBTBD13 | Bryony Thompson Classified gene: KBTBD13 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.68 | KBTBD13 | Bryony Thompson Gene: kbtbd13 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.67 | KBTBD13 |
Bryony Thompson gene: KBTBD13 was added gene: KBTBD13 was added to Arrhythmogenic Cardiomyopathy. Sources: Literature Mode of inheritance for gene: KBTBD13 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KBTBD13 were set to 36335629 Phenotypes for gene: KBTBD13 were set to Intrinsic cardiomyopathy MONDO:0000591 Review for gene: KBTBD13 was set to AMBER gene: KBTBD13 was marked as current diagnostic Added comment: In 3 families with the Nemaline myopathy type 6 (NEM6) Dutch founder variant, c.1222C>T, p.Arg408Cys (KBTBD13 p.R408C), a cardiac phenotype was found to co-segregate with the variant (LOD score 6.02). In total, 65 NEM6 patients were evaluated of whom 12% presented with LV dilatation, 29% with LVEF < 50%, 8% with atrial fibrillation, 9% with ventricular tachycardia, and 20% with repolarization abnormalities. Although some patients meet criteria for dilated cardiomyopathy, others have normal LV dimensions and meet criteria for arrhythmogenic cardiomyopathy, or display arrhythmia in the absence of cardiomyopathy. Mouse studies demonstrated that mice harbouring the Kbtbd13 p.R408C variant displayed mild diastolic dysfunction and Kbtbd13-deficient mice have systolic dysfunction. Currently, a cardiac phenotype has not been identified in individuals with any other pathogenic variants in KBTBD13. Sources: Literature |
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| Arrhythmogenic Cardiomyopathy v0.66 | LEMD2 | Seb Lunke Marked gene: LEMD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.66 | LEMD2 | Seb Lunke Gene: lemd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.66 | LEMD2 | Seb Lunke Classified gene: LEMD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.66 | LEMD2 | Seb Lunke Gene: lemd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.65 | LEMD2 |
Seb Lunke gene: LEMD2 was added gene: LEMD2 was added to Arrhythmogenic Cardiomyopathy. Sources: Literature founder tags were added to gene: LEMD2. Mode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LEMD2 were set to 31061923; 26788539; 30905398; 36377660 Phenotypes for gene: LEMD2 were set to arrhythmogenic right ventricular cardiomyopathy, MONDO:0016587 Penetrance for gene: LEMD2 were set to Incomplete Review for gene: LEMD2 was set to AMBER Added comment: Hom c38T>G LEMD2 variant associated with cataracts in 5 large Hutterite families, carriers at increased risk of sudden death associated with Arrhythmic dilated Cardiomyopathy. (pmid: 31061923, 26788539). Founder mutation, incomplete penetrance of cardiac phenotype likely. Later, a separate de-novo variant, c.1436C>T, has been described in two unrelated patients with an early progeroid appearance. No cataract or other ocular phenotypes were observed despite multiple ophthalmological examinations. Cardiac phenotypes do not appear to have been assessed. (pmid: 30905398) Most recently, Lemd2 knock-in mice for the c38T>G variants showed severe cardiomyopathy and premature death, which was rescued by AAV-Lemd2 vector induced overexpression. No indication of arrhythmia, cataract not assessed. (pmid: 36377660). It appears the cardiac and cataract phenotypes remain to be linked to the founder variant only, while no additional evidence for the progeroid phenotype is available at this time. Sources: Literature |
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| Arrhythmogenic Cardiomyopathy v0.64 | Zornitza Stark removed gene:CHD2 from the panel | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.63 | CDH2 | Zornitza Stark Marked gene: CDH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.63 | CDH2 | Zornitza Stark Gene: cdh2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.63 | CDH2 | Zornitza Stark Classified gene: CDH2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.63 | CDH2 | Zornitza Stark Gene: cdh2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.62 | CDH2 |
Zornitza Stark gene: CDH2 was added gene: CDH2 was added to Arrhythmogenic Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDH2 were set to Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920 Review for gene: CDH2 was set to AMBER Added comment: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen. Sources: Expert list |
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| Arrhythmogenic Cardiomyopathy v0.61 |
Zornitza Stark HPO terms changed from to Arrhythmia, HP:0011675;Cardiomyopathy, HP:0001638 List of related panels changed from to Arrhythmia; HP:0011675;Cardiomyopathy; HP:0001638 |
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| Arrhythmogenic Cardiomyopathy v0.60 | FLNC | Zornitza Stark Publications for gene: FLNC were set to 31924696 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.59 | FLNC | Zornitza Stark Classified gene: FLNC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.59 | FLNC | Zornitza Stark Gene: flnc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.58 | FLNC | Elena Savva reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31627847, 31924696; Phenotypes: Arrhythmogenic cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.58 | DES | Zornitza Stark Tag for review tag was added to gene: DES. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.58 | PLN | Zornitza Stark Phenotypes for gene: PLN were changed from Arrhythmogenic right ventricular cardiomyopathy; hypertrophic cardiomyopathy; dilated cardiomyopathy to Arrhythmogenic right ventricular cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.57 | PLN | Zornitza Stark Publications for gene: PLN were set to 22820313 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.56 | TMEM43 | Zornitza Stark Publications for gene: TMEM43 were set to 18313022; 21214875; 23812740; 22725725; 24598986; 29980933 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.55 | TMEM43 | Zornitza Stark Tag founder tag was added to gene: TMEM43. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.55 | JUP | Zornitza Stark Publications for gene: JUP were set to 16722579; 17924338 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.54 | DSC2 | Zornitza Stark Publications for gene: DSC2 were set to 17963498; 21062920; 23863954; 17186466; 18957847; 17033975; 28339476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.53 | DSC2 | Zornitza Stark Mode of inheritance for gene: DSC2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.52 | DSG2 | Zornitza Stark Publications for gene: DSG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.51 | DES | Ivan Macciocca reviewed gene: DES: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33831308; Phenotypes: ARVC; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.51 | DSP | Zornitza Stark Phenotypes for gene: DSP were changed from Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Carvajal syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.50 | DSP | Zornitza Stark Publications for gene: DSP were set to 15941723; 25765472; 23954618; 20864495; 21397041; 24938629; 22240500 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.49 | DSP | Zornitza Stark Mode of inheritance for gene: DSP was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.48 | DSP | Zornitza Stark edited their review of gene: DSP: Added comment: Association of bi-allelic variants and Carvajal syndrome is also well established (ARVC, woolly hair, PPK), although ClinGen have only assessed association between mono-allelic variants and ARVC.; Changed publications: 15941723, 25765472, 23954618, 20864495, 21397041, 24938629, 22240500, 31073624, 30345701, 11063735; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.48 | PLN | Ivan Macciocca edited their review of gene: PLN: Added comment: MODERATE evidence for ARVC, as reviewed by ClinGen Expert panel (published in 2021 PMID: 33831308). Common Dutch founder mutation PLN Arg14del.; Changed publications: ARVC | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.48 | PKP2 | Zornitza Stark Publications for gene: PKP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.47 | TMEM43 | Ivan Macciocca edited their review of gene: TMEM43: Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.47 | TMEM43 | Ivan Macciocca reviewed gene: TMEM43: Rating: ; Mode of pathogenicity: None; Publications: 33831308; Phenotypes: ARVC; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.47 | JUP | Ivan Macciocca reviewed gene: JUP: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33831308; Phenotypes: ARVC, Naxos disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.47 | DSP | Ivan Macciocca edited their review of gene: DSP: Changed phenotypes: ARVC, palmoplantar keratoderma, wool hair, Carvajal syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.47 | DSC2 | Ivan Macciocca reviewed gene: DSC2: Rating: ; Mode of pathogenicity: None; Publications: 33831308; Phenotypes: ARVC; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.47 | DSG2 | Ivan Macciocca reviewed gene: DSG2: Rating: ; Mode of pathogenicity: None; Publications: 33831308; Phenotypes: ARVC; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.47 | DSP | Ivan Macciocca reviewed gene: DSP: Rating: ; Mode of pathogenicity: None; Publications: 33831308; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.47 | PKP2 | Ivan Macciocca reviewed gene: PKP2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 33831308; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.47 | CTNNA3 |
Bryony Thompson changed review comment from: Gene is classified as Limited by the ClinGen ARVC GCEP (Classification - 08/06/2019). PMID: 23136403 - an assumed de novo missense (V94D) was identified in an Italian proband with arrhythmogenic right ventricular dysplasia. An inframe deletion (Leu765del) was identified in a proband with arrhythmogenic right ventricular dysplasia, and was also present in the proband's asymptomatic father and paternal aunt, who had mild right ventricular dilation on echocardiography and increased trabeculations in the right ventricular apex on MRI, respectively, as well as in the aunt's asymptomatic son. There was supporting in vitro functional assay evidence for both variants. PMID: 21254927 - a missense variant was found in one of 55 Danish ARVD patients, but was found 37 times in 276,338 (1 homozygous) reference alleles in gnomAD making it less likely as a causal variant. PMID: 22421363 - null mice exhibit progressive dilated cardiomyopathy, gap junction remodelling, and increased sensitivity to ventricular arrhythmia following acute ischaemia, but not spontaneous ARVC. PMID: 30415094 - a VUS identified in a sudden unexpected death case with slight LV hypertrophy. PMID: 31539150 - 2 VUS and a nonsense variant identified in 3 probands with atrial fibrillation, with the nonsense variant segregating in an affected first-degree relative. Sources: Other; to: Gene is classified as Limited by the ClinGen ARVC GCEP (Classification - 08/06/2019). PMID: 23136403 - an assumed de novo missense (V94D) was identified in an Italian proband with arrhythmogenic right ventricular dysplasia. An inframe deletion (Leu765del) was identified in a proband with arrhythmogenic right ventricular dysplasia, and was also present in the proband's asymptomatic father and paternal aunt, who had mild right ventricular dilation on echocardiography and increased trabeculations in the right ventricular apex on MRI, respectively, as well as in the aunt's asymptomatic son. There was supporting in vitro functional assay evidence for both variants. PMID: 21254927 - a missense variant was found in one of 55 Danish ARVD patients, but was found 37 times in 276,338 (1 homozygous) reference alleles in gnomAD making it less likely as a causal variant. PMID: 22421363 - null mice exhibit progressive dilated cardiomyopathy, gap junction remodelling, and increased sensitivity to ventricular arrhythmia following acute ischaemia, but not spontaneous ARVC. Additional publications identified - PMID: 30415094 - a VUS identified in a sudden unexpected death case with slight LV hypertrophy. PMID: 31539150 - 2 VUS and a nonsense variant identified in 3 probands with atrial fibrillation, with the nonsense variant segregating in an affected first-degree relative. Sources: Other |
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| Arrhythmogenic Cardiomyopathy v0.47 | CTNNA3 | Bryony Thompson Classified gene: CTNNA3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.47 | CTNNA3 | Bryony Thompson Gene: ctnna3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.46 | CTNNA3 |
Bryony Thompson gene: CTNNA3 was added gene: CTNNA3 was added to Arrhythmogenic Cardiomyopathy. Sources: Other Mode of inheritance for gene: CTNNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CTNNA3 were set to 23136403; 21254927; 22421363; 30415094; 31539150 Phenotypes for gene: CTNNA3 were set to Arrhythmogenic right ventricular cardiomyopathy; Arrhythmogenic right ventricular dysplasia, familial, 13 MIM#615616 Review for gene: CTNNA3 was set to AMBER Added comment: Gene is classified as Limited by the ClinGen ARVC GCEP (Classification - 08/06/2019). PMID: 23136403 - an assumed de novo missense (V94D) was identified in an Italian proband with arrhythmogenic right ventricular dysplasia. An inframe deletion (Leu765del) was identified in a proband with arrhythmogenic right ventricular dysplasia, and was also present in the proband's asymptomatic father and paternal aunt, who had mild right ventricular dilation on echocardiography and increased trabeculations in the right ventricular apex on MRI, respectively, as well as in the aunt's asymptomatic son. There was supporting in vitro functional assay evidence for both variants. PMID: 21254927 - a missense variant was found in one of 55 Danish ARVD patients, but was found 37 times in 276,338 (1 homozygous) reference alleles in gnomAD making it less likely as a causal variant. PMID: 22421363 - null mice exhibit progressive dilated cardiomyopathy, gap junction remodelling, and increased sensitivity to ventricular arrhythmia following acute ischaemia, but not spontaneous ARVC. PMID: 30415094 - a VUS identified in a sudden unexpected death case with slight LV hypertrophy. PMID: 31539150 - 2 VUS and a nonsense variant identified in 3 probands with atrial fibrillation, with the nonsense variant segregating in an affected first-degree relative. Sources: Other |
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| Arrhythmogenic Cardiomyopathy v0.45 | TMEM43 | Zornitza Stark Marked gene: TMEM43 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.45 | TMEM43 | Zornitza Stark Gene: tmem43 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.45 | TMEM43 | Zornitza Stark Phenotypes for gene: TMEM43 were changed from to Arrhythmogenic right ventricular dysplasia 5, MIM# 604400 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.44 | TMEM43 | Zornitza Stark Publications for gene: TMEM43 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.43 | TMEM43 | Zornitza Stark Mode of inheritance for gene: TMEM43 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.42 | TMEM43 | Zornitza Stark reviewed gene: TMEM43: Rating: GREEN; Mode of pathogenicity: None; Publications: 18313022, 21214875, 23812740, 22725725, 24598986, 29980933; Phenotypes: Arrhythmogenic right ventricular dysplasia 5, MIM# 604400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.42 | DSP | Zornitza Stark Marked gene: DSP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.42 | DSP | Zornitza Stark Gene: dsp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.42 | DSP | Zornitza Stark Phenotypes for gene: DSP were changed from to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.41 | DSP | Zornitza Stark Publications for gene: DSP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.40 | DSP | Zornitza Stark Mode of inheritance for gene: DSP was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.39 | DSP | Zornitza Stark reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 15941723, 25765472, 23954618, 20864495, 21397041, 24938629, 22240500; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.39 | DSC2 | Zornitza Stark Marked gene: DSC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.39 | DSC2 | Zornitza Stark Gene: dsc2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.39 | DSC2 | Zornitza Stark Phenotypes for gene: DSC2 were changed from to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.38 | DSC2 | Zornitza Stark Publications for gene: DSC2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.37 | DSC2 | Zornitza Stark Mode of inheritance for gene: DSC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.36 | DSC2 | Zornitza Stark reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17963498, 21062920, 23863954, 17186466, 18957847, 17033975, 28339476; Phenotypes: Arrhythmogenic right ventricular dysplasia 11, MIM# 610476, Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.36 | PLN | Zornitza Stark Phenotypes for gene: PLN were changed from Arrhythmogenic right ventricular cardiomyopathy to Arrhythmogenic right ventricular cardiomyopathy; hypertrophic cardiomyopathy; dilated cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.35 | PLN | Ivan Macciocca reviewed gene: PLN: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy, dilated cardiomyopathy; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.35 | BVES | Zornitza Stark Marked gene: BVES as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.35 | BVES | Zornitza Stark Added comment: Comment when marking as ready: Not an arrhythmogenic cardiomyopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.35 | BVES | Zornitza Stark Gene: bves has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.35 | BVES | Zornitza Stark Classified gene: BVES as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.35 | BVES | Zornitza Stark Gene: bves has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.34 | DSG2 | Zornitza Stark Marked gene: DSG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.34 | DSG2 | Zornitza Stark Gene: dsg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.34 | DSG2 | Zornitza Stark Phenotypes for gene: DSG2 were changed from to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.33 | DSG2 | Zornitza Stark Mode of inheritance for gene: DSG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.32 | DSG2 | Zornitza Stark reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 10, MIM# 610193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.31 | CHD2 |
Zornitza Stark changed review comment from: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Sources: Expert list; to: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Rated as LIMITED by ClinGen. Sources: Expert list |
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| Arrhythmogenic Cardiomyopathy v0.31 | PKP2 | Zornitza Stark Marked gene: PKP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.31 | PKP2 | Zornitza Stark Gene: pkp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.31 | PKP2 | Zornitza Stark Phenotypes for gene: PKP2 were changed from to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.30 | PKP2 | Zornitza Stark Mode of inheritance for gene: PKP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.29 | PKP2 | Zornitza Stark reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 9, MIM# 609040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.29 | TGFB3 | Zornitza Stark changed review comment from: Two families reported, variants in UTRs in both. One of the variants is present in 10 individuals in gnomad and was also present in unaffected family members in the original family reported, so effectively one family only. Gene is associated with LDS.; to: Two families reported, variants in UTRs in both. One of the variants is present in 10 individuals in gnomad and was also present in unaffected family members in the original family reported, so effectively one family only. Rated as LIMITED by ClinGen. Gene is associated with LDS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.29 | JUP | Zornitza Stark reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 12, MIM# 611528; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.29 | RYR2 | Zornitza Stark Publications for gene: RYR2 were set to 11159936; 25041964 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.28 | RYR2 | Zornitza Stark Tag refuted tag was added to gene: RYR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.28 | RYR2 | Zornitza Stark Classified gene: RYR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.28 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.27 | RYR2 | Zornitza Stark changed review comment from: Exon 3 deletion specifically associated with ARVC, gene-disease association not well substantiated over time so caution required.; to: Gene-disease association assessed as REFUTED by ClinGen: 57 papers reviewed in the process. Some of the original variants were relatively often present in reference alleles from the gnomAD database, clear ARVD diagnosis was not provided, segregation information was not informative and/or CPVT was also present in the family. In a recent review it was also recognized that the observed phenotype in the original three publications that reported RYR2 variants in ARVD for the first time should be catecholamine-induced ventricular tachycardia rather than ARVD, and this gene is no longer considered as ARVD causing (29543670). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.27 | RYR2 | Zornitza Stark edited their review of gene: RYR2: Changed rating: RED; Changed publications: 11159936, 25041964, 29543670 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.27 | LMNA | Zornitza Stark Marked gene: LMNA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.27 | LMNA | Zornitza Stark Gene: lmna has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.27 | LMNA | Zornitza Stark Classified gene: LMNA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.27 | LMNA | Zornitza Stark Gene: lmna has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.26 | LMNA |
Zornitza Stark gene: LMNA was added gene: LMNA was added to Arrhythmogenic Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNA were set to 22199124; 25837155; 26620845 Phenotypes for gene: LMNA were set to Cardiomyopathy, dilated, 1A, MIM# 115200; Arrhythmogenic right ventricular cardiomyopathy Review for gene: LMNA was set to AMBER Added comment: Association between LMNA and ARVC has been rated as LIMITED by ClinGen: small number of families reported where only some of the individuals with the variants had convincing ARVC phenotype. Rated Amber on this panel more due to phenotypic overlap with DCM and arrhythmias arising in this context. Sources: Expert list |
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| Arrhythmogenic Cardiomyopathy v0.25 | DES | Zornitza Stark Marked gene: DES as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.25 | DES | Zornitza Stark Gene: des has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.25 | DES | Zornitza Stark Classified gene: DES as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.25 | DES | Zornitza Stark Gene: des has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.24 | DES |
Zornitza Stark gene: DES was added gene: DES was added to Arrhythmogenic Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: DES was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DES were set to 19879535; 20423733; 24200904; 22395865; 29212896; 23168288; 20829228 Phenotypes for gene: DES were set to Cardiomyopathy, dilated, 1I, MIM# 604765; Myopathy, myofibrillar, 1 , MIM#601419; Arrhythmogenic right ventricular cardiomyopathy Review for gene: DES was set to GREEN Added comment: Assessed as MODERATE by ClinGen for ARVC, note phenotypes overlap DCM and skeletal myopathy. Multiple families reported, supportive in vitro studies. Sources: Expert list |
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| Arrhythmogenic Cardiomyopathy v0.23 | Zornitza Stark Panel name changed from Arrhythmogenic Right Ventricular Cardiomyopathy to Arrhythmogenic Cardiomyopathy | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.22 | RYR2 | Zornitza Stark Classified gene: RYR2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.22 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.21 | RYR2 | Zornitza Stark changed review comment from: Exon 3 deletion specifically associated with ARVC.; to: Exon 3 deletion specifically associated with ARVC, gene-disease association not well substantiated over time so caution required. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.21 | RYR2 | Zornitza Stark edited their review of gene: RYR2: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.21 | TGFB3 | Zornitza Stark Marked gene: TGFB3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.21 | TGFB3 | Zornitza Stark Gene: tgfb3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.21 | TGFB3 | Zornitza Stark Phenotypes for gene: TGFB3 were changed from to Arrhythmogenic right ventricular dysplasia 1, MIM# 107970 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.20 | TGFB3 | Zornitza Stark Publications for gene: TGFB3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.19 | TGFB3 | Zornitza Stark Mode of inheritance for gene: TGFB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.18 | TGFB3 | Zornitza Stark Classified gene: TGFB3 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.18 | TGFB3 | Zornitza Stark Gene: tgfb3 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.17 | TGFB3 | Zornitza Stark Tag 5'UTR tag was added to gene: TGFB3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.17 | TGFB3 | Zornitza Stark reviewed gene: TGFB3: Rating: RED; Mode of pathogenicity: None; Publications: 15639475; Phenotypes: Arrhythmogenic right ventricular dysplasia 1, MIM# 107970; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.17 | RYR2 | Zornitza Stark Marked gene: RYR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.17 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.17 | RYR2 | Zornitza Stark Phenotypes for gene: RYR2 were changed from to Arrhythmogenic right ventricular dysplasia 2, MIM# 600996 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.16 | RYR2 | Zornitza Stark Publications for gene: RYR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.15 | RYR2 | Zornitza Stark Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.14 | RYR2 | Zornitza Stark reviewed gene: RYR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11159936, 25041964; Phenotypes: Arrhythmogenic right ventricular dysplasia 2, MIM# 600996; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.14 | PLN | Zornitza Stark Marked gene: PLN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.14 | PLN | Zornitza Stark Gene: pln has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.14 | PLN | Zornitza Stark Tag founder tag was added to gene: PLN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.14 | PLN | Zornitza Stark Classified gene: PLN as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.14 | PLN | Zornitza Stark Gene: pln has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.13 | PLN |
Zornitza Stark gene: PLN was added gene: PLN was added to Arrhythmogenic Right Ventricular Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PLN were set to 22820313 Phenotypes for gene: PLN were set to Arrhythmogenic right ventricular cardiomyopathy Review for gene: PLN was set to AMBER Added comment: One specific Dutch founder variant in this gene is associated with ARVC: R14del. Gene is otherwise predominantly associated with cardiomyopathy. Sources: Expert list |
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| Arrhythmogenic Cardiomyopathy v0.12 | FLNC | Zornitza Stark Marked gene: FLNC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.12 | FLNC | Zornitza Stark Gene: flnc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.12 | FLNC | Zornitza Stark Classified gene: FLNC as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.12 | FLNC | Zornitza Stark Gene: flnc has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.11 | FLNC |
Zornitza Stark gene: FLNC was added gene: FLNC was added to Arrhythmogenic Right Ventricular Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLNC were set to 31924696 Phenotypes for gene: FLNC were set to Arrhythmogenic right ventricular cardiomyopathy Review for gene: FLNC was set to AMBER Added comment: Two families reported with truncating variants in this gene and ARVC. Gene is also associated with cardiomyopathy. Sources: Expert list |
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| Arrhythmogenic Cardiomyopathy v0.10 | CHD2 | Zornitza Stark Classified gene: CHD2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.10 | CHD2 | Zornitza Stark Gene: chd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.9 | CHD2 | Zornitza Stark edited their review of gene: CHD2: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.9 | BVES | Zornitza Stark Marked gene: BVES as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.9 | BVES | Zornitza Stark Gene: bves has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.9 | BVES | Zornitza Stark Publications for gene: BVES were set to PMID: 26642364; 31119192 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.8 | BVES | Zornitza Stark Classified gene: BVES as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.8 | BVES | Zornitza Stark Gene: bves has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.7 | BVES |
Elena Savva gene: BVES was added gene: BVES was added to Arrhythmogenic Right Ventricular Cardiomyopathy. Sources: Literature Mode of inheritance for gene: BVES was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BVES were set to PMID: 26642364; 31119192 Phenotypes for gene: BVES were set to Muscular dystrophy, limb-girdle, autosomal recessive 25 616812 Review for gene: BVES was set to AMBER Added comment: OMIM: aka POPDC1 PMID: 26642364 - 1 family (3 affecteds) with cardiac arrhythmia and limb-girdle muscular dystrophy. Supported by functional studies. The proband showed lower limb girdle weakness at ~40 years old with muscle biopsy proving dystrophic changes. His 2 affected grandchildren had onset in teenage years. PMID: 31119192 - 3 families (4 affecteds) with limb-girdle muscular weakness and cardiac abnormalities/arrhythmia. All had onset in adulthood, with exercise intolerance or proximal weakness. Summary: multiple reports of patients with arrhythmias Sources: Literature |
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| Arrhythmogenic Cardiomyopathy v0.7 | CHD2 | Zornitza Stark Marked gene: CHD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.7 | CHD2 | Zornitza Stark Gene: chd2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.7 | CHD2 |
Zornitza Stark gene: CHD2 was added gene: CHD2 was added to Arrhythmogenic Right Ventricular Cardiomyopathy. Sources: Expert list Mode of inheritance for gene: CHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CHD2 were set to Arrhythmogenic right ventricular dysplasia, familial, 14, OMIM#618920 Review for gene: CHD2 was set to RED Added comment: Several South African families reported, where missense variants segregate with ARVC. Two different variants reported. Sources: Expert list |
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| Arrhythmogenic Cardiomyopathy v0.6 | JUP | Zornitza Stark Marked gene: JUP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.6 | JUP | Zornitza Stark Gene: jup has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.6 | JUP | Zornitza Stark Phenotypes for gene: JUP were changed from to Arrhythmogenic right ventricular dysplasia 12 MIM# 611528; Naxos disease MIM# 601214 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.5 | JUP | Zornitza Stark Publications for gene: JUP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.4 | JUP | Zornitza Stark Mode of inheritance for gene: JUP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.3 | JUP | Teresa Zhao reviewed gene: JUP: Rating: GREEN; Mode of pathogenicity: None; Publications: 16722579, 17924338; Phenotypes: Arrhythmogenic right ventricular dysplasia 12 MIM# 611528, Naxos disease MIM# 601214; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.3 | Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.2 | Zornitza Stark Panel name changed from Arrhythmogenic right ventricular cardiomyopathy_ARVC to Arrhythmogenic Right Ventricular Cardiomyopathy | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.1 |
Zornitza Stark Panel name changed from Arrhythmogenic right ventricular cardiomyopathy_VCGS to Arrhythmogenic right ventricular cardiomyopathy_ARVC Panel types changed to Victorian Clinical Genetics Services |
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| Arrhythmogenic Cardiomyopathy v0.0 | TMEM43 |
Zornitza Stark gene: TMEM43 was added gene: TMEM43 was added to Arrhythmogenic right ventricular cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TMEM43 was set to Unknown |
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| Arrhythmogenic Cardiomyopathy v0.0 | TGFB3 |
Zornitza Stark gene: TGFB3 was added gene: TGFB3 was added to Arrhythmogenic right ventricular cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TGFB3 was set to Unknown |
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| Arrhythmogenic Cardiomyopathy v0.0 | RYR2 |
Zornitza Stark gene: RYR2 was added gene: RYR2 was added to Arrhythmogenic right ventricular cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RYR2 was set to Unknown |
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| Arrhythmogenic Cardiomyopathy v0.0 | PKP2 |
Zornitza Stark gene: PKP2 was added gene: PKP2 was added to Arrhythmogenic right ventricular cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PKP2 was set to Unknown |
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| Arrhythmogenic Cardiomyopathy v0.0 | JUP |
Zornitza Stark gene: JUP was added gene: JUP was added to Arrhythmogenic right ventricular cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: JUP was set to Unknown |
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| Arrhythmogenic Cardiomyopathy v0.0 | DSP |
Zornitza Stark gene: DSP was added gene: DSP was added to Arrhythmogenic right ventricular cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DSP was set to Unknown |
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| Arrhythmogenic Cardiomyopathy v0.0 | DSG2 |
Zornitza Stark gene: DSG2 was added gene: DSG2 was added to Arrhythmogenic right ventricular cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DSG2 was set to Unknown |
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| Arrhythmogenic Cardiomyopathy v0.0 | DSC2 |
Zornitza Stark gene: DSC2 was added gene: DSC2 was added to Arrhythmogenic right ventricular cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DSC2 was set to Unknown |
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| Arrhythmogenic Cardiomyopathy v0.0 | Zornitza Stark Added panel Arrhythmogenic right ventricular cardiomyopathy_VCGS | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||