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Dilated Cardiomyopathy v1.33 MYZAP Zornitza Stark changed review comment from: 10 individuals from four unrelated families with bi-allelic variants in this gene with DCM. Supportive zebrafish model.

Note the MYZAP and GCOM1 genes are part of the GRINL1A complex transcription unit. Some of the reported variants affect GCOM1 with postulated effect on MYZAP due to read through transcription (two families), and in the rest of the families MYZAP was affected directly.
Sources: Literature; to: 10 individuals from four unrelated families with bi-allelic variants in this gene with DCM. Supportive zebrafish model.

The MYZAP gene is part of the GRINL1A complex transcription unit (CTU), or GCOM1, which also includes the downstream POLR2M gene, or GRINL1A.. Some of the reported variants affect GCOM1 with postulated effect on MYZAP due to read through transcription (two families), and in the rest of the families MYZAP was affected directly.

Transcription from an upstream promoter within the GRINL1A CTU produces 2 types of alternatively spliced transcripts: MYZAP transcripts, also called GRINL1A upstream (GUP) transcripts, which include only exons from the MYZAP gene, and GRINL1A combined (GCOM) transcripts, which include exons from both the MYZAP gene and the downstream POLR2M gene. Transcription of the POLR2M gene initiates at a downstream promoter within the GRINL1A CTU and produces alternatively spliced POLR2M transcripts, also called GRINL1A downstream (GDOWN) transcripts, which include only exons from the POLR2M gene
Sources: Literature
Dilated Cardiomyopathy v1.33 MYZAP Zornitza Stark Marked gene: MYZAP as ready
Dilated Cardiomyopathy v1.33 MYZAP Zornitza Stark Gene: myzap has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.33 MYZAP Zornitza Stark Classified gene: MYZAP as Green List (high evidence)
Dilated Cardiomyopathy v1.33 MYZAP Zornitza Stark Gene: myzap has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.32 MYZAP Zornitza Stark gene: MYZAP was added
gene: MYZAP was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: MYZAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYZAP were set to 34899865; 35840178; 38436102; 20093627
Phenotypes for gene: MYZAP were set to Cardiomyopathy, dilated, 2K, MIM# 620894
Review for gene: MYZAP was set to GREEN
Added comment: 10 individuals from four unrelated families with bi-allelic variants in this gene with DCM. Supportive zebrafish model.

Note the MYZAP and GCOM1 genes are part of the GRINL1A complex transcription unit. Some of the reported variants affect GCOM1 with postulated effect on MYZAP due to read through transcription (two families), and in the rest of the families MYZAP was affected directly.
Sources: Literature
Dilated Cardiomyopathy v1.31 C10orf71 Zornitza Stark Marked gene: C10orf71 as ready
Dilated Cardiomyopathy v1.31 C10orf71 Zornitza Stark Gene: c10orf71 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.31 C10orf71 Zornitza Stark Classified gene: C10orf71 as Green List (high evidence)
Dilated Cardiomyopathy v1.31 C10orf71 Zornitza Stark Gene: c10orf71 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.30 C10orf71 Sangavi Sivagnanasundram gene: C10orf71 was added
gene: C10orf71 was added to Dilated Cardiomyopathy. Sources: Other
Mode of inheritance for gene: C10orf71 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: C10orf71 were set to 38950288
Phenotypes for gene: C10orf71 were set to dilated cardiomyopathy MONDO:0005021
Review for gene: C10orf71 was set to GREEN
Added comment: Identified a frameshift variant in a large multigenerational family with 8 affected individuals.
Further identified four other loss of function variants in a large Chinese cohort of sporadic DCM cases. >50 unrelated individuals identified with loss of function variants.

c10orf71-Knockout mouse model recapitulating DCM human phenotype (impairs cardiac function) in the presence of the frameshift variant.
Sources: Other
Dilated Cardiomyopathy v1.30 PKP2 Suliman Khan edited their review of gene: PKP2: Changed phenotypes: Cardiomyopathy, MONDO:0004994, PKP2-related
Dilated Cardiomyopathy v1.30 PKP2 Zornitza Stark Phenotypes for gene: PKP2 were changed from Arrhythmogenic right ventricular dysplasia 9 (MIM#609040); Dilated cardiomyopathy; hypoplastic left heart syndrome; hydrops fetalis; ventricular septal defect; left ventricular non-compaction to 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
Dilated Cardiomyopathy v1.29 PKP2 Seb Lunke Publications for gene: PKP2 were set to 15489853; 16567567; 30562116; 35059364; 38050058
Dilated Cardiomyopathy v1.29 PKP2 Seb Lunke Publications for gene: PKP2 were set to 15489853; 16567567; 38050058
Dilated Cardiomyopathy v1.28 PKP2 Seb Lunke Mode of inheritance for gene: PKP2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v1.27 PKP2 Seb Lunke Classified gene: PKP2 as Green List (high evidence)
Dilated Cardiomyopathy v1.27 PKP2 Seb Lunke Gene: pkp2 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.26 PKP2 Elena Savva Classified gene: PKP2 as Green List (high evidence)
Dilated Cardiomyopathy v1.26 PKP2 Elena Savva Gene: pkp2 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.25 PKP2 Elena Savva Phenotypes for gene: PKP2 were changed from Arrhythmogenic right ventricular dysplasia 9 (MIM#609040) to Arrhythmogenic right ventricular dysplasia 9 (MIM#609040); Dilated cardiomyopathy; hypoplastic left heart syndrome; hydrops fetalis; ventricular septal defect; left ventricular non-compaction
Dilated Cardiomyopathy v1.24 PKP2 Elena Savva Publications for gene: PKP2 were set to 15489853; 16567567
Dilated Cardiomyopathy v1.24 PKP2 Elena Savva Mode of inheritance for gene: PKP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Dilated Cardiomyopathy v1.23 PKP2 Suliman Khan changed review comment from: PMID: 30562116: PMID: 30562116 reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed.
PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD).
PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consistent to Wolff Parkinson-White syndrome.
Sources: Literature; to: PMID: 30562116: reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed.
PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD).
PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consistent to Wolff Parkinson-White syndrome.; to: PMID: 30562116: reported 2 cases with hypoplastic left heart syndrome (HLHS) and features of noncompaction resulting from a homozygous truncating variant in the PKP2 gene (c.1211dup (p.Val406fsTer4). In the second pregnancy, additional features of fetal hydrops, HLHS, severe RVH, NC, multiple VSD were observed.

PMID: 35059364: reported a homozygous PKP2 variant, c.1511-1G>C, in an infant with neonatal onset of congestive heart failure owing to severe Left ventricular non-compaction (LVNC) and multiple muscular ventricular septal defect (VSD).

PMID: 38050058 reported biallelic loss of function variants in three cases with lethal form of dilated cardiomyopathy with excessive trabeculations (DCM-ET). In case 1, additional symptoms reported were micrognathia, retrognathia and hypertelorism. Case 2 had no extracardiac anomalies. In case 3, additional symptoms of hepatomegaly, supraventricular tachycardia consistent to Wolff Parkinson-White syndrome.
Dilated Cardiomyopathy v1.23 PKP2 Suliman Khan reviewed gene: PKP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30562116, PMID: 35059364, PMID: 38050058; Phenotypes: Dilated cardiomyopathy, hypoplastic left heart syndrome, hydrops fetalis, ventricular septal defect, left ventricular non-compaction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v1.23 CAP2 Zornitza Stark Marked gene: CAP2 as ready
Dilated Cardiomyopathy v1.23 CAP2 Zornitza Stark Gene: cap2 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.23 CAP2 Zornitza Stark Classified gene: CAP2 as Green List (high evidence)
Dilated Cardiomyopathy v1.23 CAP2 Zornitza Stark Gene: cap2 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.22 CAP2 Daniel Flanagan gene: CAP2 was added
gene: CAP2 was added to Dilated Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: CAP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAP2 were set to PMID: 30518548; 33083013; 34862840
Phenotypes for gene: CAP2 were set to Cardiomyopathy, dilated, 2I (MIM#620462)
Review for gene: CAP2 was set to GREEN
Added comment: Four patients from three families with homozygous variants and early onset DCM. Knockout mouse model shows DCM and cardiac conduction disease.

PMID: 33083013: Cheema
Homozygous nonsense (p.(Tyr316*)) reported in a DCM and heart failure patient. Two siblings deceased due to DCM but not tested.

PMID: 34862840: Gurunathan
Homozygous PTC identified in an infant with severe dilated cardiomyopathy, biventricular dysfunction and left ventricular noncompaction. Carrier parents unaffected.

PMID: 30518548: Aspit
Homozygous canonical splice variant in two cousins from a consanguineous family with DCM. All carriers unaffected. Knockout mouse model shows DCM and cardiac conduction disease.
Sources: Expert list
Dilated Cardiomyopathy v1.22 TBX20 Zornitza Stark Phenotypes for gene: TBX20 were changed from Dilated cardiomyopathy to Dilated cardiomyopathy, MONDO:0005021, TBX20-related
Dilated Cardiomyopathy v1.21 TBX20 Zornitza Stark Publications for gene: TBX20 were set to 26118961; 17668378; 27510170
Dilated Cardiomyopathy v1.20 TBX20 Zornitza Stark Mode of inheritance for gene: TBX20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v1.19 TBX20 Zornitza Stark Classified gene: TBX20 as Green List (high evidence)
Dilated Cardiomyopathy v1.19 TBX20 Zornitza Stark Gene: tbx20 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.18 TBX20 Zornitza Stark reviewed gene: TBX20: Rating: GREEN; Mode of pathogenicity: None; Publications: 35282022; Phenotypes: Dilated cardiomyopathy, MONDO:0005021, TBX20-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v1.18 ACTN2 Zornitza Stark Phenotypes for gene: ACTN2 were changed from Intrinsic cardiomyopathy to Cardiomyopathy, dilated, 1AA, with or without LVNC, MIM# 612158
Dilated Cardiomyopathy v1.17 ACTN2 Zornitza Stark Classified gene: ACTN2 as Green List (high evidence)
Dilated Cardiomyopathy v1.17 ACTN2 Zornitza Stark Gene: actn2 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.16 ACTN2 Zornitza Stark reviewed gene: ACTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1AA, with or without LVNC, MIM# 612158; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v1.16 PPCS Bryony Thompson Classified gene: PPCS as Red List (low evidence)
Dilated Cardiomyopathy v1.16 PPCS Bryony Thompson Added comment: Comment on list classification: This gene is associated with early-onset DCM and is not suitable for this panel which contains genes associated with adolescent and adult-onset DCM
Dilated Cardiomyopathy v1.16 PPCS Bryony Thompson Gene: ppcs has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v1.15 Zornitza Stark HPO terms changed from to Dilated cardiomyopathy, HP:0001644
List of related panels changed from to Dilated cardiomyopathy; HP:0001644
Dilated Cardiomyopathy v1.14 PRDM16 Zornitza Stark Publications for gene: PRDM16 were set to PMID: 23768516; 24387995; 31965688.
Dilated Cardiomyopathy v1.13 PRDM16 Zornitza Stark Classified gene: PRDM16 as Green List (high evidence)
Dilated Cardiomyopathy v1.13 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.12 PRDM16 Paul De Fazio reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: 29367541, 29447731, 30847666, 33082984, 32183154, 33500567, 34540771, 34350506, 34935411; Phenotypes: Cardiomyopathy, dilated, 1LL MIM#615373, Left ventricular noncompaction 8 MIM#615373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v1.12 DSG2 Zornitza Stark Publications for gene: DSG2 were set to 23071725
Dilated Cardiomyopathy v1.11 DSG2 Zornitza Stark Mode of inheritance for gene: DSG2 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v1.10 DSG2 Zornitza Stark Classified gene: DSG2 as Amber List (moderate evidence)
Dilated Cardiomyopathy v1.10 DSG2 Zornitza Stark Gene: dsg2 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v1.9 DSG2 Zornitza Stark changed review comment from: Assessed as LIMITED by ClinGen for mono-allelic variants:

Human genetic evidence supporting this gene-disease relationship includes one published definitive DCM case with truncating variant in DSG2 published by Garcia-Pavia et al (2011, PMID: 21859740). Of note, this person had limited ECG/arrhythmia phenotyping. Multiple other published variants have population frequencies which exclude them from scoring, as they are observed at a frequency higher than would be expected to have a pathogenic effect. In addition, this gene-disease association is supported by experimental evidence from postnatal DCM hearts showing reduced DSG2 signal in myocardium and other intercalated disc proteins were normal(Kessler et al, 2017, PMID: 28764973). In summary, there is limited evidence to support this gene-disease relationship.

Bi-allelic variants: three families reported.; to: Assessed as LIMITED by ClinGen for mono-allelic variants:

Human genetic evidence supporting this gene-disease relationship includes one published definitive DCM case with truncating variant in DSG2 published by Garcia-Pavia et al (2011, PMID: 21859740). Of note, this person had limited ECG/arrhythmia phenotyping. Multiple other published variants have population frequencies which exclude them from scoring, as they are observed at a frequency higher than would be expected to have a pathogenic effect. In addition, this gene-disease association is supported by experimental evidence from postnatal DCM hearts showing reduced DSG2 signal in myocardium and other intercalated disc proteins were normal(Kessler et al, 2017, PMID: 28764973). In summary, there is limited evidence to support this gene-disease relationship.

Bi-allelic variants: three families reported, two with missense variants.

DEFINITIVE for ARVC.
Dilated Cardiomyopathy v1.9 DSG2 Zornitza Stark changed review comment from: Assessed as LIMITED by ClinGen for mono-allelic variants:

Human genetic evidence supporting this gene-disease relationship includes one published definitive DCM case with truncating variant in DSG2 published by Garcia-Pavia et al (2011, PMID: 21859740). Of note, this person had limited ECG/arrhythmia phenotyping. Multiple other published variants have population frequencies which exclude them from scoring, as they are observed at a frequency higher than would be expected to have a pathogenic effect. In addition, this gene-disease association is supported by experimental evidence from postnatal DCM hearts showing reduced DSG2 signal in myocardium and other intercalated disc proteins were normal(Kessler et al, 2017, PMID: 28764973). In summary, there is limited evidence to support this gene-disease relationship.

Bi-allelic variants: two families reported.; to: Assessed as LIMITED by ClinGen for mono-allelic variants:

Human genetic evidence supporting this gene-disease relationship includes one published definitive DCM case with truncating variant in DSG2 published by Garcia-Pavia et al (2011, PMID: 21859740). Of note, this person had limited ECG/arrhythmia phenotyping. Multiple other published variants have population frequencies which exclude them from scoring, as they are observed at a frequency higher than would be expected to have a pathogenic effect. In addition, this gene-disease association is supported by experimental evidence from postnatal DCM hearts showing reduced DSG2 signal in myocardium and other intercalated disc proteins were normal(Kessler et al, 2017, PMID: 28764973). In summary, there is limited evidence to support this gene-disease relationship.

Bi-allelic variants: three families reported.
Dilated Cardiomyopathy v1.9 DSG2 Zornitza Stark edited their review of gene: DSG2: Changed publications: 33949662, 18678517, 21859740, 28764973, 35941102
Dilated Cardiomyopathy v1.9 DSG2 Zornitza Stark reviewed gene: DSG2: Rating: AMBER; Mode of pathogenicity: None; Publications: 33949662, 18678517, 21859740, 28764973; Phenotypes: Cardiomyopathy, dilated, 1BB, MIM# 612877; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v1.9 CHRM2 Zornitza Stark Marked gene: CHRM2 as ready
Dilated Cardiomyopathy v1.9 CHRM2 Zornitza Stark Gene: chrm2 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v1.9 CHRM2 Zornitza Stark gene: CHRM2 was added
gene: CHRM2 was added to Dilated Cardiomyopathy. Sources: Expert Review
Mode of inheritance for gene: CHRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHRM2 were set to 23743182; 18451336
Phenotypes for gene: CHRM2 were set to Familial Dilated Cardiomyopathy MONDO#0016333, CHRM2-related
Review for gene: CHRM2 was set to RED
Added comment: 1 family with 12 affecteds (Cys176Gly, absent in gnomad). Proteomics analysis was later conducted

This gene has not been curated by the ClinGen DCM expert panel.
Sources: Expert Review
Dilated Cardiomyopathy v1.7 PPCS Michelle Torres reviewed gene: PPCS: Rating: ; Mode of pathogenicity: None; Publications: 29754768; Phenotypes: Cardiomyopathy, dilated, 2C, MIM# 618189; Mode of inheritance: None
Dilated Cardiomyopathy v1.7 BAG5 Zornitza Stark Marked gene: BAG5 as ready
Dilated Cardiomyopathy v1.7 BAG5 Zornitza Stark Gene: bag5 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.7 BAG5 Zornitza Stark Classified gene: BAG5 as Green List (high evidence)
Dilated Cardiomyopathy v1.7 BAG5 Zornitza Stark Gene: bag5 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v1.6 BAG5 Zornitza Stark gene: BAG5 was added
gene: BAG5 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: BAG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BAG5 were set to 35044787
Phenotypes for gene: BAG5 were set to Cardiomyopathy, dilated, 2F, MIM# 619747
Review for gene: BAG5 was set to GREEN
Added comment: 5 individuals from four unrelated families reported. All had early-onset disease, with the diagnosis being made in the second decade of life in 4 patients (families 1, 3, and 4) and at age 34 in 1 (family 2). Refractory ventricular arrhythmias (tachycardia or fibrillation), severely reduced left ventricular ejection fractions, elevated left ventricular diastolic dimensions, and elevated brain natriuretic peptide (BNP) levels reported. All developed severe heart failure requiring placement of a left ventricular assist device for circulatory support, and at least 1 underwent cardiac transplantation.
Sources: Literature
Dilated Cardiomyopathy v1.5 NEBL Bryony Thompson Classified gene: NEBL as Amber List (moderate evidence)
Dilated Cardiomyopathy v1.5 NEBL Bryony Thompson Added comment: Comment on list classification: Limited gene-disease vailidity, Classification - 09/25/2020 by ClinGen Dilated Cardiomyopathy GCEP. Evidence Summary: NEBL was evaluated for autosomal dominant dilated cardiomyopathy (DCM). Human genetic evidence supporting this gene-disease relationship includes case-level data. Arimura and colleagues (2000, PMID: 11140941) analyzed 83 DCM patients and 311 healthy controls, identifying 4 missense variants of unknown significance (VUSs) in 4 DCM cases. High minor allele frequencies (MAFs) and lack of segregation excluded these variants as evidence. Purevjav and colleagues (2010, PMID: 20951326) investigated a total of 260 DCM patients and 300 unrelated ethnic matched controls by direct DNA sequencing. Authors identified 4 missense VUSs. One of these variants (Q128R) was downgraded in level of evidence due to the lack of segregation. The other 3 variants were not scored because of their MAF. Perrot and colleagues (2016, PMID: 27186169) investigated a total of 389 patients with DCM, HCM, or LVNC, 320 Caucasian sex-matched controls and 192 Caucasian sex-matched blood donors and identified 3 missense VUSs in 4 families. One of these variants was also carried by healthy relatives and therefore was excluded, however this may be explained by reduced penetrance. The 2 other variants lacked segregation as well and therefore were also excluded. In addition, this gene-disease association is supported by animal models. Mastronotaro and colleagues (2015, PMID: 25987543) created a NEBL knockout mice that exhibited normal cardiac function up to 9 months of age but after 2 weeks of transaortic constriction (TAC), these mice showed Z-line widening since the age of 5 months and upregulation of cardiac stress genes (basal and after TAC) However, absence of clinical DCM features in KO-NEBL mice as well as Western Blot analysis which contradicted previous findings by showing a similar protein expression between knockout and wild-type mice, excluding it as evidence. Purevjav and colleagues (2010, PMID: 20951326) generated a transgenic mouse overexpressing WT or mutant NEBL under the control of the α-MyHC promoter (4 variants were tested). Mice overexpressing p.K60N or p.Q128R variants died within 1 year because of severe heart enlargement and heart failure. Mice overexpressing p.G202R or p.A592E were born and developed normally but after 6 months displayed reduced stress tolerance, cardiac enlargement due to left ventricle dilation, myocyte disarray, and interstitial cell infiltration. In summary, there is limited evidence to support this gene-disease relationship. More evidence is needed to support the relationship of NEBL and autosomal dominant DCM. This classification was approved by the ClinGen Dilated Cardiomyopathy Working Group on October 11, 2019 (SOP Version 7).
Gene Clinical Validity Standard Operating Procedures (SOP) - SOP7
Dilated Cardiomyopathy v1.5 NEBL Bryony Thompson Gene: nebl has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v1.4 JPH2 Zornitza Stark Phenotypes for gene: JPH2 were changed from dilated cardiomyopathy to Cardiomyopathy, dilated, 2E, MIM# 619492
Dilated Cardiomyopathy v1.3 JPH2 Zornitza Stark edited their review of gene: JPH2: Changed phenotypes: Cardiomyopathy, dilated, 2E, MIM# 619492
Dilated Cardiomyopathy v1.3 Zornitza Stark removed gene:RPL3L from the panel
Dilated Cardiomyopathy v1.2 RPL3L Zornitza Stark reviewed gene: RPL3L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 2D, MIM# 619371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v1.2 SLC6A6 Zornitza Stark Phenotypes for gene: SLC6A6 were changed from Early retinal degeneration; cardiomyopathy to Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350; Early retinal degeneration; cardiomyopathy
Dilated Cardiomyopathy v1.1 SLC6A6 Zornitza Stark edited their review of gene: SLC6A6: Changed phenotypes: Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350, Early retinal degeneration, cardiomyopathy
Dilated Cardiomyopathy v1.0 Zornitza Stark promoted panel to version 1.0
Dilated Cardiomyopathy v0.148 VCL Zornitza Stark Marked gene: VCL as ready
Dilated Cardiomyopathy v0.148 VCL Zornitza Stark Gene: vcl has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.148 VCL Zornitza Stark Phenotypes for gene: VCL were changed from to Cardiomyopathy, dilated, 1W, MIM# 611407
Dilated Cardiomyopathy v0.147 VCL Zornitza Stark Publications for gene: VCL were set to
Dilated Cardiomyopathy v0.146 VCL Zornitza Stark Mode of inheritance for gene: VCL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.145 VCL Zornitza Stark reviewed gene: VCL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983221, 32516855, 26406308, 26458567, 24062880, 11815424, 17785437; Phenotypes: Cardiomyopathy, dilated, 1W, MIM# 611407; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.145 TPM1 Zornitza Stark Marked gene: TPM1 as ready
Dilated Cardiomyopathy v0.145 TPM1 Zornitza Stark Gene: tpm1 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.145 TPM1 Zornitza Stark Phenotypes for gene: TPM1 were changed from to Cardiomyopathy, dilated, 1Y, MIM# 611878
Dilated Cardiomyopathy v0.144 TPM1 Zornitza Stark Publications for gene: TPM1 were set to
Dilated Cardiomyopathy v0.143 TPM1 Zornitza Stark Mode of inheritance for gene: TPM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.142 TPM1 Zornitza Stark Tag for review tag was added to gene: TPM1.
Dilated Cardiomyopathy v0.142 TPM1 Zornitza Stark reviewed gene: TPM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11273725, 23147248, 20117437, 15249230, 20215591, 21483645, 31983221, 28600229; Phenotypes: Cardiomyopathy, dilated, 1Y, MIM# 611878; Mode of inheritance: None
Dilated Cardiomyopathy v0.142 NEXN Zornitza Stark Tag for review tag was added to gene: NEXN.
Dilated Cardiomyopathy v0.142 TNNI3 Zornitza Stark Tag for review tag was added to gene: TNNI3.
Dilated Cardiomyopathy v0.142 TNNI3 Zornitza Stark Phenotypes for gene: TNNI3 were changed from ?Cardiomyopathy, dilated, 2A 611880; Cardiomyopathy, dilated, 1FF 613286; Cardiomyopathy, familial restrictive, 1115210; Cardiomyopathy, hypertrophic, 761369 to Cardiomyopathy, dilated, 1FF, MIM#613286
Dilated Cardiomyopathy v0.141 TNNI3 Zornitza Stark Publications for gene: TNNI3 were set to 15607392
Dilated Cardiomyopathy v0.140 TNNI3 Zornitza Stark Mode of inheritance for gene: TNNI3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.139 TNNI3 Zornitza Stark reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22464770, 31568572, 19590045, 20215591, 21846512, 2226790; Phenotypes: Cardiomyopathy, dilated, 1FF, MIM#613286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.139 NEXN Zornitza Stark Marked gene: NEXN as ready
Dilated Cardiomyopathy v0.139 NEXN Zornitza Stark Gene: nexn has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.139 NEXN Zornitza Stark Phenotypes for gene: NEXN were changed from to Cardiomyopathy, dilated, 1CC, MIM# 613122
Dilated Cardiomyopathy v0.138 NEXN Zornitza Stark Publications for gene: NEXN were set to
Dilated Cardiomyopathy v0.137 NEXN Zornitza Stark Mode of inheritance for gene: NEXN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.136 NEXN Zornitza Stark reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: None; Publications: 19881492, 28416588, 25163546, 27532257, 24503780, 29540472, 26659360; Phenotypes: Cardiomyopathy, dilated, 1CC, MIM# 613122; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.136 JPH2 Zornitza Stark Publications for gene: JPH2 were set to PMID: 31227780
Dilated Cardiomyopathy v0.135 JPH2 Zornitza Stark Mode of inheritance for gene: JPH2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.134 JPH2 Zornitza Stark Classified gene: JPH2 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.134 JPH2 Zornitza Stark Gene: jph2 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.133 JPH2 Zornitza Stark changed review comment from: Gene is also associated with HCM.

Multiple families segregating DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models.; to: Gene is also associated with HCM.

Several families with DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models.

MODERATE by ClinGen.
Dilated Cardiomyopathy v0.133 JPH2 Zornitza Stark edited their review of gene: JPH2: Added comment: Gene is also associated with HCM.

Multiple families segregating DCM and variants in this gene, plus more severe bi-allelic disease reported, animal models.; Changed rating: AMBER; Changed publications: 29540472, 31227780, 29165669, 27471098, 30384889, 31227780, 10949023, 23715556; Changed phenotypes: Dilated cardiomyopathy; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.133 ACTC1 Zornitza Stark Marked gene: ACTC1 as ready
Dilated Cardiomyopathy v0.133 ACTC1 Zornitza Stark Gene: actc1 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.133 ACTC1 Zornitza Stark Phenotypes for gene: ACTC1 were changed from to Cardiomyopathy, dilated, 1R, MIM# 613424
Dilated Cardiomyopathy v0.132 ACTC1 Zornitza Stark Publications for gene: ACTC1 were set to
Dilated Cardiomyopathy v0.131 ACTC1 Zornitza Stark Mode of inheritance for gene: ACTC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.130 ACTC1 Zornitza Stark Tag for review tag was added to gene: ACTC1.
Dilated Cardiomyopathy v0.130 ACTC1 Zornitza Stark reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31430208, 30384889, 9563954, 14605248, 20600154, 26432839; Phenotypes: Cardiomyopathy, dilated, 1R, MIM# 613424; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.130 DSP Zornitza Stark Marked gene: DSP as ready
Dilated Cardiomyopathy v0.130 DSP Zornitza Stark Gene: dsp has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.130 DSP Zornitza Stark Phenotypes for gene: DSP were changed from to Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676
Dilated Cardiomyopathy v0.129 DSP Zornitza Stark Publications for gene: DSP were set to
Dilated Cardiomyopathy v0.128 DSP Zornitza Stark Mode of inheritance for gene: DSP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.127 DSP Zornitza Stark reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983221, 24108106; Phenotypes: Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821, Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.127 TTN Zornitza Stark Publications for gene: TTN were set to 22335739; 25589632; 28045975
Dilated Cardiomyopathy v0.126 TTN Zornitza Stark edited their review of gene: TTN: Added comment: DEFINITIVE by ClinGen.; Changed publications: 22335739, 33947203
Dilated Cardiomyopathy v0.126 TNNT2 Zornitza Stark Marked gene: TNNT2 as ready
Dilated Cardiomyopathy v0.126 TNNT2 Zornitza Stark Gene: tnnt2 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.126 TNNT2 Zornitza Stark Phenotypes for gene: TNNT2 were changed from to Cardiomyopathy, dilated, 1D, MIM# 601494
Dilated Cardiomyopathy v0.125 TNNT2 Zornitza Stark Publications for gene: TNNT2 were set to
Dilated Cardiomyopathy v0.124 TNNT2 Zornitza Stark Mode of inheritance for gene: TNNT2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.123 TNNT2 Zornitza Stark reviewed gene: TNNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203, 11106718, 20978592, 20031601, 15542288, 17556660; Phenotypes: Cardiomyopathy, dilated, 1D, MIM# 601494; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.123 TNNC1 Zornitza Stark Marked gene: TNNC1 as ready
Dilated Cardiomyopathy v0.123 TNNC1 Zornitza Stark Gene: tnnc1 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.123 TNNC1 Zornitza Stark Publications for gene: TNNC1 were set to
Dilated Cardiomyopathy v0.122 TNNC1 Zornitza Stark Phenotypes for gene: TNNC1 were changed from to Cardiomyopathy, dilated, 1Z, MIM# 611879; MONDO:0012745
Dilated Cardiomyopathy v0.121 TNNC1 Zornitza Stark Mode of inheritance for gene: TNNC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.120 TNNC1 Zornitza Stark reviewed gene: TNNC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203, 31983221, 17977476, 19808376; Phenotypes: Cardiomyopathy, dilated, 1Z, MIM# 611879; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.120 RBM20 Zornitza Stark Publications for gene: RBM20 were set to 30871351
Dilated Cardiomyopathy v0.119 RBM20 Zornitza Stark reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203; Phenotypes: Cardiomyopathy, dilated, 1DD 613172 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.119 PLN Zornitza Stark Marked gene: PLN as ready
Dilated Cardiomyopathy v0.119 PLN Zornitza Stark Gene: pln has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.119 PLN Zornitza Stark Phenotypes for gene: PLN were changed from to Cardiomyopathy, dilated, 1P, MIM# 609909
Dilated Cardiomyopathy v0.118 PLN Zornitza Stark Publications for gene: PLN were set to
Dilated Cardiomyopathy v0.117 PLN Zornitza Stark Mode of inheritance for gene: PLN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.116 PLN Zornitza Stark reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203; Phenotypes: Cardiomyopathy, dilated, 1P, MIM# 609909; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.116 MYH7 Zornitza Stark Marked gene: MYH7 as ready
Dilated Cardiomyopathy v0.116 MYH7 Zornitza Stark Gene: myh7 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.116 MYH7 Zornitza Stark Phenotypes for gene: MYH7 were changed from to Cardiomyopathy, dilated, 1S, MIM# 613426; MONDO:0013262
Dilated Cardiomyopathy v0.115 MYH7 Zornitza Stark Publications for gene: MYH7 were set to
Dilated Cardiomyopathy v0.114 MYH7 Zornitza Stark Mode of inheritance for gene: MYH7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.113 MYH7 Zornitza Stark reviewed gene: MYH7: Rating: GREEN; Mode of pathogenicity: None; Publications: 21483645, 30874888, 21846512, 30384889, 25935763, 24558114, 27000522, 31179125, 24119082, 27965028, 33947203; Phenotypes: Cardiomyopathy, dilated, 1S, MIM# 613426, MONDO:0013262; Mode of inheritance: None
Dilated Cardiomyopathy v0.113 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from Dilated cardiomyopathy to Cardiomyopathy, dilated, 1A, MIM# 115200
Dilated Cardiomyopathy v0.112 LMNA Zornitza Stark Publications for gene: LMNA were set to
Dilated Cardiomyopathy v0.111 LMNA Zornitza Stark edited their review of gene: LMNA: Added comment: DEFINITIVE by ClinGen.; Changed rating: GREEN; Changed publications: 33947203; Changed phenotypes: Cardiomyopathy, dilated, 1A, MIM# 115200; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.111 FLNC Zornitza Stark Publications for gene: FLNC were set to 30067491; 28008423; 31245841; 28436997; 32112656
Dilated Cardiomyopathy v0.110 FLNC Zornitza Stark reviewed gene: FLNC: Rating: GREEN; Mode of pathogenicity: None; Publications: 33947203; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.110 DES Zornitza Stark Marked gene: DES as ready
Dilated Cardiomyopathy v0.110 DES Zornitza Stark Gene: des has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.110 DES Zornitza Stark Phenotypes for gene: DES were changed from to Cardiomyopathy, dilated, 1I, MIM# 604765; MONDO:0011482
Dilated Cardiomyopathy v0.109 DES Zornitza Stark Publications for gene: DES were set to
Dilated Cardiomyopathy v0.108 DES Zornitza Stark Mode of inheritance for gene: DES was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.107 DES Zornitza Stark reviewed gene: DES: Rating: GREEN; Mode of pathogenicity: None; Publications: 10430757, 11728149, 17325244, 23300193, 31514951, 26724190, 23349452, 25557463, 33947203; Phenotypes: Cardiomyopathy, dilated, 1I, MIM# 604765, MONDO:0011482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.107 BAG3 Zornitza Stark Marked gene: BAG3 as ready
Dilated Cardiomyopathy v0.107 BAG3 Zornitza Stark Gene: bag3 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.107 BAG3 Zornitza Stark Phenotypes for gene: BAG3 were changed from to Cardiomyopathy, dilated, 1HH, MIM# 613881; MONDO:0013479
Dilated Cardiomyopathy v0.106 BAG3 Zornitza Stark Publications for gene: BAG3 were set to
Dilated Cardiomyopathy v0.105 BAG3 Zornitza Stark Mode of inheritance for gene: BAG3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.104 BAG3 Zornitza Stark edited their review of gene: BAG3: Changed phenotypes: Cardiomyopathy, dilated, 1HH, MIM# 613881, MONDO:0013479
Dilated Cardiomyopathy v0.104 BAG3 Zornitza Stark reviewed gene: BAG3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21353195, 25008357, 25448463, 24623017, 27391596, 28211974, 30442290, 31983221, 28737513, 29323723, 33947203; Phenotypes: Cardiomyopathy, dilated, 1HH, MIM# 613881; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.104 SCN5A Zornitza Stark Marked gene: SCN5A as ready
Dilated Cardiomyopathy v0.104 SCN5A Zornitza Stark Gene: scn5a has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.104 SCN5A Zornitza Stark Phenotypes for gene: SCN5A were changed from to Cardiomyopathy, dilated, 1E, MIM# 601154
Dilated Cardiomyopathy v0.103 SCN5A Zornitza Stark Publications for gene: SCN5A were set to
Dilated Cardiomyopathy v0.102 SCN5A Zornitza Stark Mode of inheritance for gene: SCN5A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.101 SCN5A Zornitza Stark reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 15671429, 15671429, 19808398, 21596231, 20458009, 22675453, 22766342, 22999724, 29871609, 29506689, 31514951, 31930659, 31520233, 17512504, 21824921, 30218094; Phenotypes: Cardiomyopathy, dilated, 1E, MIM# 601154; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.101 Zornitza Stark removed gene:MYLK3 from the panel
Dilated Cardiomyopathy v0.100 Zornitza Stark removed gene:NRAP from the panel
Dilated Cardiomyopathy v0.99 MYLK3 Zornitza Stark Marked gene: MYLK3 as ready
Dilated Cardiomyopathy v0.99 MYLK3 Zornitza Stark Gene: mylk3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.99 MYLK3 Zornitza Stark Classified gene: MYLK3 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.99 MYLK3 Zornitza Stark Gene: mylk3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.98 MYLK3 Zornitza Stark gene: MYLK3 was added
gene: MYLK3 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: MYLK3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYLK3 were set to 29235529; 31244672; 32213617; 32870709
Phenotypes for gene: MYLK3 were set to Dilated cardiomyopathy
Review for gene: MYLK3 was set to AMBER
Added comment: Two families reported with mono-allelic variants (one extension, one frameshift), and three consanguineous families reported with bi-allelic variants (two hmz frameshift, one hmz missense). Supportive mouse models.
Sources: Literature
Dilated Cardiomyopathy v0.97 NRAP Zornitza Stark Marked gene: NRAP as ready
Dilated Cardiomyopathy v0.97 NRAP Zornitza Stark Gene: nrap has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.97 NRAP Zornitza Stark Classified gene: NRAP as Green List (high evidence)
Dilated Cardiomyopathy v0.97 NRAP Zornitza Stark Gene: nrap has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.96 NRAP Zornitza Stark gene: NRAP was added
gene: NRAP was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: NRAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NRAP were set to 33534821; 30384889; 28611399; 32870709
Phenotypes for gene: NRAP were set to Dilated cardiomyopathy
Review for gene: NRAP was set to GREEN
Added comment: Twenty unrelated families reported with childhood onset DCM.
Sources: Literature
Dilated Cardiomyopathy v0.95 MYBPC3 Zornitza Stark Classified gene: MYBPC3 as Red List (low evidence)
Dilated Cardiomyopathy v0.95 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.94 MYBPC3 Zornitza Stark reviewed gene: MYBPC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1MM, MIM#615396; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.94 MYBPC3 Zornitza Stark Marked gene: MYBPC3 as ready
Dilated Cardiomyopathy v0.94 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.94 MYBPC3 Zornitza Stark Phenotypes for gene: MYBPC3 were changed from to Cardiomyopathy, dilated, 1MM, MIM#615396
Dilated Cardiomyopathy v0.93 MYBPC3 Zornitza Stark Mode of inheritance for gene: MYBPC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.92 MYBPC3 Zornitza Stark Classified gene: MYBPC3 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.92 MYBPC3 Zornitza Stark Gene: mybpc3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.91 MYBPC3 Paul De Fazio reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1MM, MIM#615396; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy v0.91 RPL3L Zornitza Stark Mode of inheritance for gene: RPL3L was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.90 RPL3L Elena Savva edited their review of gene: RPL3L: Added comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.

PMID: 32870709 - 1 hom patient w/ neonatal DCM
Sources: Literature; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.90 RPL3L Seb Lunke Marked gene: RPL3L as ready
Dilated Cardiomyopathy v0.90 RPL3L Seb Lunke Gene: rpl3l has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.90 RPL3L Seb Lunke Classified gene: RPL3L as Green List (high evidence)
Dilated Cardiomyopathy v0.90 RPL3L Seb Lunke Gene: rpl3l has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.89 RPL3L Elena Savva gene: RPL3L was added
gene: RPL3L was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: RPL3L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL3L were set to PMID: 32514796; 32870709
Phenotypes for gene: RPL3L were set to Neonatal dilated cardiomyopathy
Review for gene: RPL3L was set to GREEN
Added comment: PMID: 32514796 - 5 hom/chet individuals from three independent families who presented with severe neonatal dilated cardiomyopathy. Unaffected sibs were either carriers of a single variant or homozygous wildtype.

PMID: 32870709 - 1 hom patient w/ neonatal DCM
Sources: Literature
Dilated Cardiomyopathy v0.89 FKRP Zornitza Stark Marked gene: FKRP as ready
Dilated Cardiomyopathy v0.89 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.89 FKRP Zornitza Stark Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155
Dilated Cardiomyopathy v0.88 FKRP Zornitza Stark Classified gene: FKRP as Green List (high evidence)
Dilated Cardiomyopathy v0.88 FKRP Zornitza Stark Gene: fkrp has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.87 FKRP Elena Savva gene: FKRP was added
gene: FKRP was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: FKRP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKRP were set to PMID: 32914449
Phenotypes for gene: FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5, 607155; Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5, 606612; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153
Review for gene: FKRP was set to GREEN
Added comment: PMID: 32914449 - reviewed 56 patients w/ LGMD R9 and biallelic FKRP mutations. Dilated cardiomyopathy detected in 45% of patients with a median age of 54 years for patients homozygous for the common founder c.826C>A, compared to 18 years of age for other genotypes.
Sources: Literature
Dilated Cardiomyopathy v0.87 TBX5 Zornitza Stark Marked gene: TBX5 as ready
Dilated Cardiomyopathy v0.87 TBX5 Zornitza Stark Gene: tbx5 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.87 TBX5 Zornitza Stark Classified gene: TBX5 as Green List (high evidence)
Dilated Cardiomyopathy v0.87 TBX5 Zornitza Stark Gene: tbx5 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.86 TBX5 Zornitza Stark gene: TBX5 was added
gene: TBX5 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBX5 were set to 32449309; 32236096; 25963046; 25725155
Phenotypes for gene: TBX5 were set to Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy
Review for gene: TBX5 was set to GREEN
Added comment: 8 individuals from 4 unrelated families reported in PMID 32449309, relatively mild skeletal manifestations of HOS and DCM a prominent feature in several. Note previous reports, and supportive mouse model.
Sources: Literature
Dilated Cardiomyopathy v0.85 Zornitza Stark removed gene:PGM1 from the panel
Dilated Cardiomyopathy v0.84 PGM1 Zornitza Stark Marked gene: PGM1 as ready
Dilated Cardiomyopathy v0.84 PGM1 Zornitza Stark Gene: pgm1 has been removed from the panel.
Dilated Cardiomyopathy v0.84 PGM1 Sarah Donoghue gene: PGM1 was added
gene: PGM1 was added to Dilated Cardiomyopathy. Sources: Expert Review
Mode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGM1 were set to PMID: 31563034; PMID: 26303607PMID: 24878975; PMID: 27206562; PMID: 29858906; PMID: 32681750
Phenotypes for gene: PGM1 were set to Dilated Cardiomyopathy; Cleft Palate; Bifid Uvula; Hypothyroidism; Hepatopathy; Elevated transaminases; Hypogonadotropic hypogonadism; Hypoglycaemia; Rhabdomyolysis; Skeletal myopathy; Malignant hypothermia; Abnormal Coagulation
Penetrance for gene: PGM1 were set to Complete
gene: PGM1 was marked as current diagnostic
Added comment: Mixed type disorder of glycosylation - may have type I/II pattern
Often glycosylation abnormalities less prominent in adulthood
May also normalise with high milk intake

Abnormalities of coagulation, hypothyroidism, hypogonadotrophic hypogonadism, hypoglycaemia, can have abnormal IGF1, IGFB3

This condition is treatable with galactose - may correct glycosylation abnormalities
Sources: Expert Review
Dilated Cardiomyopathy v0.83 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Rare Disease
Dilated Cardiomyopathy v0.82 LAMA4 Zornitza Stark Marked gene: LAMA4 as ready
Dilated Cardiomyopathy v0.82 LAMA4 Zornitza Stark Gene: lama4 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.82 LDB3 Zornitza Stark Marked gene: LDB3 as ready
Dilated Cardiomyopathy v0.82 LDB3 Zornitza Stark Gene: ldb3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.82 LDB3 Zornitza Stark Phenotypes for gene: LDB3 were changed from to Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493
Dilated Cardiomyopathy v0.81 LDB3 Zornitza Stark Publications for gene: LDB3 were set to 26419279; 16427346; 14660611; 14662268
Dilated Cardiomyopathy v0.81 LDB3 Zornitza Stark Publications for gene: LDB3 were set to
Dilated Cardiomyopathy v0.80 LDB3 Zornitza Stark Mode of inheritance for gene: LDB3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.80 LDB3 Zornitza Stark Mode of inheritance for gene: LDB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.79 LDB3 Zornitza Stark Classified gene: LDB3 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.79 LDB3 Zornitza Stark Gene: ldb3 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.78 LDB3 Paul De Fazio reviewed gene: LDB3: Rating: AMBER; Mode of pathogenicity: None; Publications: 26419279, 16427346, 14660611, 14662268; Phenotypes: Cardiomyopathy, dilated, 1C, with or without LVNC MIM#601493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Marked gene: PKP2 as ready
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Added comment: Comment when marking as ready: Included due to phenotypic overlap between ARVC and DCM, limited evidence for association with DCM.
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Gene: pkp2 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Classified gene: PKP2 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.78 PKP2 Zornitza Stark Gene: pkp2 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.77 EMD Zornitza Stark Marked gene: EMD as ready
Dilated Cardiomyopathy v0.77 EMD Zornitza Stark Gene: emd has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.77 EMD Zornitza Stark Classified gene: EMD as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.77 EMD Zornitza Stark Gene: emd has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.76 PKP2 Paul De Fazio edited their review of gene: PKP2: Changed rating: AMBER
Dilated Cardiomyopathy v0.76 PKP2 Paul De Fazio gene: PKP2 was added
gene: PKP2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PKP2 were set to 15489853; 16567567
Phenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9 (MIM#609040)
gene: PKP2 was marked as current diagnostic
Added comment: Mutations in the PKP2 gene have been identified in individuals with arrhythmogenic right ventricular cardiomyopathy (ARVC). This condition most commonly affects the myocardium surrounding the right ventricle, one of the two lower chambers of the heart. ARVC increases the risk of an abnormal heartbeat (arrhythmia) and sudden death.

https://ghr.nlm.nih.gov/gene/PKP2
PMID:15489853, 16567567
https://doi.org/10.1371/journal.pone.0100560

ClinVar reports 1 variants only in an individual with DCM annotated as “LP” p.(His679Thr). No data regarding the variant associated with DCM is reported in GnomAD, supporting its low prevalence. However, if this is a variant linked to a clinical phenotype that initially manifested as ACM and then evolved into DCM is yet to be assessed. Considering that clinically cardiomyopathies are diseases with a progressive course, one cannot exclude that DCM cases carrying Pkp2 variants could be cases of advanced Arrythmogenic Cardiomyopathy (ACM or ARVC) which were missed in the initial disease phases. (https://doi.org/10.3389/fcvm.2018.00184)
Sources: Literature
Dilated Cardiomyopathy v0.76 NKX2-5 Zornitza Stark Marked gene: NKX2-5 as ready
Dilated Cardiomyopathy v0.76 NKX2-5 Zornitza Stark Gene: nkx2-5 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.76 NKX2-5 Zornitza Stark gene: NKX2-5 was added
gene: NKX2-5 was added to Dilated Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: NKX2-5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-5 were set to 30354339; 28690296; 25503402; 27855642
Phenotypes for gene: NKX2-5 were set to Dilated cardiomyopathy
Review for gene: NKX2-5 was set to RED
Added comment: Established gene-disease association with multiple cardiac phenotypes.

PMID: 30354339 (2018) - NKX2.5 variant segregated with disease in one large Icelandic family (11 affecteds with the variant, 12 unaffecteds with the variant - some young). Not in GnomAD but in 1/7100 Icelanders (0.0001 pop freq)

PMID: 28690296 (2017) - Cohort of sporadic adult onset DCM, 2 unrelated individuals with novel variants (absent in their control cohort and GnomAD), functional analysis show significantly reduced transcriptional activity and downstream impact on targets GATA4 and TBX20.

PMID: 25503402 (2015) - Cohort of idiopathic DCM, one family with novel variant (absent in GnomAD), segregated with disease in 3 affected family members (3 meiosis, 2 siblings and a child). Functional analysis revealed significantly reduced transcriptional activity

PMID: 27855642 (2016) - Two unrelated families with multiple affecteds. Same residue, alternate changes, both absent in GnomAD. Non-segregation mentioned, reduced penetrance stated explanation.
Sources: Expert list
Dilated Cardiomyopathy v0.75 EMD Paul De Fazio gene: EMD was added
gene: EMD was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: EMD were set to 24997722
Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300
Review for gene: EMD was set to AMBER
gene: EMD was marked as current diagnostic
Added comment: Associated with Emery-Dreifuss muscular dystrophy. DCM can be a feature. Can find no evidence of isolated DCM.

1 Chinese family was reported with a frameshift variant in EMD who initially presented with only DCM, but were found to also have very mild skeletal muscle degeneration once the variant was discovered (PMID: 24997722).

After discussion with ZS Emery-Dreifuss can be difficult to diagnose, therefore this gene belongs on this panel.
Sources: Literature
Dilated Cardiomyopathy v0.75 ILK Zornitza Stark Marked gene: ILK as ready
Dilated Cardiomyopathy v0.75 ILK Zornitza Stark Gene: ilk has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.75 ILK Zornitza Stark Publications for gene: ILK were set to 17646580; 27886618; 25163546
Dilated Cardiomyopathy v0.75 LAMA4 Zornitza Stark Phenotypes for gene: LAMA4 were changed from to Cardiomyopathy, dilated, 1JJ (MIM#615235)
Dilated Cardiomyopathy v0.74 LAMA4 Zornitza Stark Publications for gene: LAMA4 were set to
Dilated Cardiomyopathy v0.73 TAZ Zornitza Stark Marked gene: TAZ as ready
Dilated Cardiomyopathy v0.73 TAZ Zornitza Stark Added comment: Comment when marking as ready: Included in the paediatric cardiomyopathy panel.
Dilated Cardiomyopathy v0.73 TAZ Zornitza Stark Gene: taz has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.73 LAMA4 Zornitza Stark Mode of inheritance for gene: LAMA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.72 LAMA4 Zornitza Stark Classified gene: LAMA4 as Red List (low evidence)
Dilated Cardiomyopathy v0.72 LAMA4 Zornitza Stark Gene: lama4 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.71 LAMA4 Zornitza Stark Tag disputed tag was added to gene: LAMA4.
Dilated Cardiomyopathy v0.71 TAZ Zornitza Stark Classified gene: TAZ as Red List (low evidence)
Dilated Cardiomyopathy v0.71 TAZ Zornitza Stark Gene: taz has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.71 ILK Zornitza Stark Publications for gene: ILK were set to
Dilated Cardiomyopathy v0.70 ILK Zornitza Stark Phenotypes for gene: ILK were changed from to Dilated cardiomyopathy
Dilated Cardiomyopathy v0.69 TAZ Zornitza Stark Phenotypes for gene: TAZ were changed from to Barth syndrome (MIM# 302060)
Dilated Cardiomyopathy v0.68 TAZ Zornitza Stark Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated Cardiomyopathy v0.68 TAZ Zornitza Stark Classified gene: TAZ as Red List (low evidence)
Dilated Cardiomyopathy v0.68 TAZ Zornitza Stark Gene: taz has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.67 LAMA4 Paul De Fazio reviewed gene: LAMA4: Rating: RED; Mode of pathogenicity: None; Publications: 17646580, 26406308, 27532257; Phenotypes: Cardiomyopathy, dilated, 1JJ (MIM#615235); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v0.67 TBX20 Zornitza Stark Marked gene: TBX20 as ready
Dilated Cardiomyopathy v0.67 TBX20 Zornitza Stark Gene: tbx20 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.67 TBX20 Zornitza Stark Classified gene: TBX20 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.67 TBX20 Zornitza Stark Gene: tbx20 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Marked gene: TCAP as ready
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Added comment: Comment when marking as ready: Very limited evidence for a link with DCM, note most of the variants reported have a population frequency that is out of keeping for a rare Mendelian disorder.
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Gene: tcap has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Classified gene: TCAP as Red List (low evidence)
Dilated Cardiomyopathy v0.66 TCAP Zornitza Stark Gene: tcap has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.65 JUP Zornitza Stark Marked gene: JUP as ready
Dilated Cardiomyopathy v0.65 JUP Zornitza Stark Added comment: Comment when marking as ready: Note DCM is also a feature of Naxos disease, though additional features also present.
Dilated Cardiomyopathy v0.65 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.65 JUP Zornitza Stark Phenotypes for gene: JUP were changed from Arrhythmogenic right ventricular dysplasia 12 (MIM#611528) to Arrhythmogenic right ventricular dysplasia 12 (MIM#611528); Naxos disease, MIM# 601214
Dilated Cardiomyopathy v0.64 JUP Zornitza Stark Classified gene: JUP as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.64 JUP Zornitza Stark Gene: jup has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.63 JUP Zornitza Stark Mode of inheritance for gene: JUP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.62 ILK Zornitza Stark Mode of inheritance for gene: ILK was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.61 ILK Zornitza Stark Classified gene: ILK as Red List (low evidence)
Dilated Cardiomyopathy v0.61 ILK Zornitza Stark Gene: ilk has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Marked gene: TMEM43 as ready
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Added comment: Comment when marking as ready: No established link with DCM, but included here due to phenotypic overlap with ARVC.
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Classified gene: TMEM43 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.60 TMEM43 Zornitza Stark Gene: tmem43 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Tag SV/CNV tag was added to gene: PRDM16.
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Marked gene: PRDM16 as ready
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Added comment: Comment when marking as ready: Associated with LVNC phenotype, included here due to phenotypic overlap with DCM though the evidence for association with DCM is limited.
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Classified gene: PRDM16 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.59 PRDM16 Zornitza Stark Gene: prdm16 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Marked gene: GATA6 as ready
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Added comment: Comment when marking as ready: Borderline number of segregations done as part of the original study.
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Gene: gata6 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Classified gene: GATA6 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.58 GATA6 Zornitza Stark Gene: gata6 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.57 FLNC Zornitza Stark Marked gene: FLNC as ready
Dilated Cardiomyopathy v0.57 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.57 FLNC Zornitza Stark Classified gene: FLNC as Green List (high evidence)
Dilated Cardiomyopathy v0.57 FLNC Zornitza Stark Gene: flnc has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Marked gene: FKTN as ready
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Classified gene: FKTN as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Classified gene: FKTN as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.56 FKTN Zornitza Stark Gene: fktn has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.55 FKTN Zornitza Stark Tag SV/CNV tag was added to gene: FKTN.
Dilated Cardiomyopathy v0.55 TAZ Ain Roesley reviewed gene: TAZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome (MIM# 302060); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Dilated Cardiomyopathy v0.55 TBX20 Ain Roesley gene: TBX20 was added
gene: TBX20 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: TBX20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBX20 were set to 26118961; 17668378; 27510170
Phenotypes for gene: TBX20 were set to Dilated cardiomyopathy
Penetrance for gene: TBX20 were set to unknown
Review for gene: TBX20 was set to AMBER
Added comment: PMID: 26118961
- 1x missense (p.(Phe256Ile)) (absent in gnomAD) in a family with 4 affecteds across 2 generations (total of 3 meiosis)

PMID: 17668378;
DCM in 2 individuals in a family with a nonsense variant (p.(Gln195*)) (absent in gnomAD)
- 1 also had mitral valve disease
- the other also had atrial septal defect and pulmonary hypertension

PMID: 27510170;
- 1x in a DCM patient (p.(Glu143*) (absent in gnomAD)
- present in 3 other affected family members across 3 generations
- proband's sister and daughter also presented with congenital atrial septal defect (ASD)
Sources: Literature
Dilated Cardiomyopathy v0.55 TCAP Ain Roesley gene: TCAP was added
gene: TCAP was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: TCAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TCAP were set to 31303467; 15582318; 24037902
Phenotypes for gene: TCAP were set to Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM# 601954); Cardiomyopathy, hypertrophic, 25 (MIM# 607487)
Penetrance for gene: TCAP were set to unknown
Review for gene: TCAP was set to AMBER
Added comment: PMID: 31303467;
- 1x DCM patient with a missense classified as a VUS by ACMG scheme.
- Glu105Gln (143 hets in gnomAD)

PMID: 15582318;
- 1x DCM patient with a missense
- Glu132Gln (1 het in gnomad)

PMID: 24037902;
- 5x in DCM cohort, all missense except 1 in-frame del
gnomad counts of each variant:
- Glu13del (280 hets, 1 hom)
- Glu105Lys (28 hets)
- Arg106Cys (5095 hets, 523 homs)
- Ala118Val (80 hets, 1 hom)
- Arg158Cys (absent)
Sources: Literature
Dilated Cardiomyopathy v0.55 JUP Paul De Fazio gene: JUP was added
gene: JUP was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: JUP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12 (MIM#611528)
Review for gene: JUP was set to AMBER
gene: JUP was marked as current diagnostic
Added comment: Definitive for ARVC by ClinGen but no association with DCM that I can find. This gene is green on PanelApp GEL DCM panel due to phenotypic overlap.
Sources: Literature
Dilated Cardiomyopathy v0.55 ILK Paul De Fazio changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies, although 1 also had a TTN frameshift variant. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).
Dilated Cardiomyopathy v0.55 ILK Paul De Fazio changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I can only find evidence in the supp material of the TTN frameshift in the individual with Arg149Gln.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). 1 patient (Leu53Met) also had a MYBPC3 missense variant variant and 1 (Arg149Gln) also had a TTN frameshift variant.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).
Dilated Cardiomyopathy v0.55 ILK Paul De Fazio changed review comment from: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I'm not sure where this information comes from.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).; to: Summary: 4 individuals with DCM reported with variants with 3 or fewer hets in gnomAD, mostly in cohort studies. 1 individual with HCM also reported. Red in PanelApp GEL.

PMID 17646580: Used zebrafish model to identify novel genes required for myocardial function and found ILK as a candidate. Screening individuals with severe DCM showed a Ala262Val missense variant (absent from gnomAD). Functional studies showed reduced kinase activity for the mutant protein.

PMID 27886618: 4 variants identified in a DCM cohort (gnomad: Glu51Gn 3 hets, Leu53Met 122 hets, Arg149Gln 3 hets, Arg349His 27 hets). The PanelApp GEL review for this gene states that 1 patient had a previously reported MYBPC3 variant and 1 had a TTN frameshift variant, but I can only find evidence in the supp material of the TTN frameshift in the individual with Arg149Gln.

PMID 25163546: 3 variants identified in a DCM cohort (gnomAD: 18 hets, 269 hets, Absent).

1 missense variant also seen in a HCM cohort (PMID: 26656175; 4 hets in gnomAD).
Dilated Cardiomyopathy v0.55 ILK Paul De Fazio reviewed gene: ILK: Rating: AMBER; Mode of pathogenicity: None; Publications: 17646580, 27886618, 25163546; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v0.55 TMEM43 Ain Roesley gene: TMEM43 was added
gene: TMEM43 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TMEM43 were set to 18313022; 21214875; 23812740; 22725725; 24598986
Phenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5 (MIM# 604400)
Penetrance for gene: TMEM43 were set to unknown
Review for gene: TMEM43 was set to AMBER
Added comment: Definitive for ARVC by ClinGen working group

p.(Ser358Leu) is known as the "Newfoundland" founder variant

From ClinGen:
At least 9 variants (mostly missense) have been reported. However, the pathogenicity of most of the variants is unknown. The majority of genetic evidence comes from case-level data and segregation data for one founder variant, p.(Ser358Leu), which has been reported in more than 20 families with ARVC and occurred 1x de novo (PMID:18313022;21214875;23812740; 22725725;24598986).

*no reports for isolated DCM
Sources: Literature
Dilated Cardiomyopathy v0.55 PRDM16 Naomi Baker gene: PRDM16 was added
gene: PRDM16 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRDM16 were set to PMID: 23768516; 24387995; 31965688.
Phenotypes for gene: PRDM16 were set to Cardiomyopathy, dilated, 1LL MIM#615373; Left ventricular noncompaction 8 MIM#615373
Review for gene: PRDM16 was set to AMBER
Added comment: Arndt et al., 2013 (PMID:23768516) identified a minimal deletion region of PRDM16 in 1p36del syndrome. Resequencing a cohort of 75 LVNC patients identified three SNV mutations (one truncation, one frameshift, one missense) and sequencing a series of cardiac biopsies from 131 individuals with DCM identified 5 individuals with 4 previously unreported nonsynonomous variants.

This publication was refuted by Leeuw & Houge 2014 (PMID: 24387995).

Deplancq et al., 2020 (PMID: 31965688) describes the first fetal case of left ventricular non‐compaction (LVNC) with a heterozygous de novo nonsense variant.
Sources: Literature
Dilated Cardiomyopathy v0.55 GATA6 Paul De Fazio gene: GATA6 was added
gene: GATA6 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: GATA6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GATA6 were set to 25119427; 31301121; 20705924
Phenotypes for gene: GATA6 were set to Dilated cardiomyopathy
Review for gene: GATA6 was set to AMBER
gene: GATA6 was marked as current diagnostic
Added comment: PMID 25119427: 2 Chinese DCM families from a cohort of 140 reported with missense variants in GATA6 (both variants absent from gnomAD). Variants segregated with disease. Luciferase reporter assays showed the GATA6 mutant proteins caused reduced transcriptional activation.

Other clinical reports list complex cardiac phenotypes associated with other abnormalities (especially pancreatic) (PMID: 31301121).

Combinatorial deletion of Gata4 and Gata6 from the adult heart of mice resulted in dilated cardiomyopathy and lethality by 16 weeks of age (PMID: 20705924).
Sources: Literature
Dilated Cardiomyopathy v0.55 FLNC Paul De Fazio changed review comment from: PMID 32112656 summarises the mutational spectrum of FLNC. 60 different LoF and 3 different missense variants have been described across the literature and LOVD in patients/families with DCM. Other cardiac phenotypes (e.g. HCM) are also associated with variants in FLNC, but have a might higher incidence of missense variants over LoF variants.

Knockdown in the zebrafish ortholog results in abnormal cardiac function and ultrastructure.

Green on PanelApp GEL.
Sources: Literature; to: PMID 32112656 summarises the mutational spectrum of FLNC. 60 different LoF and 3 different missense variants have been described across the literature and LOVD in patients/families with DCM. Other cardiac phenotypes (e.g. HCM) are also associated with variants in FLNC, but have a much higher incidence of missense variants over LoF variants.

Knockdown in the zebrafish ortholog results in abnormal cardiac function and ultrastructure.

Green on PanelApp GEL.
Sources: Literature
Dilated Cardiomyopathy v0.55 FLNC Paul De Fazio gene: FLNC was added
gene: FLNC was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FLNC were set to 30067491; 28008423; 31245841; 28436997; 32112656
Phenotypes for gene: FLNC were set to Dilated cardiomyopathy
Review for gene: FLNC was set to GREEN
gene: FLNC was marked as current diagnostic
Added comment: PMID 32112656 summarises the mutational spectrum of FLNC. 60 different LoF and 3 different missense variants have been described across the literature and LOVD in patients/families with DCM. Other cardiac phenotypes (e.g. HCM) are also associated with variants in FLNC, but have a might higher incidence of missense variants over LoF variants.

Knockdown in the zebrafish ortholog results in abnormal cardiac function and ultrastructure.

Green on PanelApp GEL.
Sources: Literature
Dilated Cardiomyopathy v0.55 FKTN Paul De Fazio gene: FKTN was added
gene: FKTN was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FKTN were set to 17036286; 19015585
Phenotypes for gene: FKTN were set to Cardiomyopathy, dilated, 1X MIM#611615
Review for gene: FKTN was set to AMBER
gene: FKTN was marked as current diagnostic
Added comment: Total 6 families (5 Japanese) with DCM and mild proximal muscle weakness.

PMID 17036286: 4 Japanese families with dilated cardiomyopathy with no or minimal limb girdle muscle involvement and normal intelligence. The patients were chet for a 3kb retrotransposon in the FKTN 3' UTR (all patients) and a missense variant (either Gln358Pro or Arg179Thr, both absent from gnomAD). The 3kb insertion is associated with a common founder haplotype and is found in 87% of alleles causing autosomal recessive Fukuyama congenital muscular dystrophy.

PMID 19015585: 1 patient with DCM, mild muscle involvement, and no brain involvement was chet for the 3kb insertion described above and Cys101Phe (absent from gnomad). The 3kb insertion was also found heterozygous in 2 other DCM patients and 3 controls.

DOI: 10.1055/s-0036-1583659 (no PMID, only abstract available) describes 2 sibs of a consanguineous Turkish family with homozygous exon 3 deletion, who had mild, non-progressive proximal muscle weakness and DCM.
Sources: Literature
Dilated Cardiomyopathy v0.55 CSRP3 Zornitza Stark Marked gene: CSRP3 as ready
Dilated Cardiomyopathy v0.55 CSRP3 Zornitza Stark Gene: csrp3 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.55 CSRP3 Zornitza Stark Phenotypes for gene: CSRP3 were changed from to Cardiomyopathy, dilated, 1M MIM#607482
Dilated Cardiomyopathy v0.54 CSRP3 Zornitza Stark Publications for gene: CSRP3 were set to
Dilated Cardiomyopathy v0.53 CSRP3 Zornitza Stark Mode of inheritance for gene: CSRP3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.52 CSRP3 Zornitza Stark Classified gene: CSRP3 as Red List (low evidence)
Dilated Cardiomyopathy v0.52 CSRP3 Zornitza Stark Gene: csrp3 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.51 CSRP3 Zornitza Stark Tag disputed tag was added to gene: CSRP3.
Dilated Cardiomyopathy v0.51 DSC2 Zornitza Stark Marked gene: DSC2 as ready
Dilated Cardiomyopathy v0.51 DSC2 Zornitza Stark Added comment: Comment when marking as ready: No concrete evidence for association with DCM.
Dilated Cardiomyopathy v0.51 DSC2 Zornitza Stark Gene: dsc2 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.51 DSC2 Zornitza Stark Classified gene: DSC2 as Red List (low evidence)
Dilated Cardiomyopathy v0.51 DSC2 Zornitza Stark Gene: dsc2 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.50 DOLK Zornitza Stark Marked gene: DOLK as ready
Dilated Cardiomyopathy v0.50 DOLK Zornitza Stark Gene: dolk has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.50 DOLK Zornitza Stark Classified gene: DOLK as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.50 DOLK Zornitza Stark Gene: dolk has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.49 CRYAB Zornitza Stark Marked gene: CRYAB as ready
Dilated Cardiomyopathy v0.49 CRYAB Zornitza Stark Gene: cryab has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.49 CRYAB Zornitza Stark Phenotypes for gene: CRYAB were changed from to Cardiomyopathy, dilated, 1II, MIM#615184
Dilated Cardiomyopathy v0.48 CRYAB Zornitza Stark Publications for gene: CRYAB were set to
Dilated Cardiomyopathy v0.47 CRYAB Zornitza Stark Mode of inheritance for gene: CRYAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.46 CRYAB Zornitza Stark Classified gene: CRYAB as Red List (low evidence)
Dilated Cardiomyopathy v0.46 CRYAB Zornitza Stark Gene: cryab has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.45 CDH2 Zornitza Stark Marked gene: CDH2 as ready
Dilated Cardiomyopathy v0.45 CDH2 Zornitza Stark Gene: cdh2 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.45 CDH2 Zornitza Stark Classified gene: CDH2 as Red List (low evidence)
Dilated Cardiomyopathy v0.45 CDH2 Zornitza Stark Gene: cdh2 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.44 ACTN2 Zornitza Stark Marked gene: ACTN2 as ready
Dilated Cardiomyopathy v0.44 ACTN2 Zornitza Stark Gene: actn2 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.44 ACTN2 Zornitza Stark Classified gene: ACTN2 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.44 ACTN2 Zornitza Stark Gene: actn2 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.43 DSC2 Paul De Fazio gene: DSC2 was added
gene: DSC2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSC2 were set to 21859740
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia 11 with or without mild palmoplantar keratoderma and woolly hair MIM#610476
Review for gene: DSC2 was set to AMBER
gene: DSC2 was marked as current diagnostic
Added comment: ClinGen "Definitive" for ARVC. I can find no specific association with DCM, but this gene is green on the PanelApp GEL DCM panel for phenotypic overlap with DCM.

One VUS in DSC2 was identified in a patient who had undergone transplant for DCM (PMID: 21859740) (24 hets in gnomAD).
Sources: Literature
Dilated Cardiomyopathy v0.43 DOLK Paul De Fazio gene: DOLK was added
gene: DOLK was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: DOLK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOLK were set to 31741824; 28816422; 24144945; 22242004
Phenotypes for gene: DOLK were set to Congenital disorder of glycosylation, type Im MIM#610768
Review for gene: DOLK was set to AMBER
gene: DOLK was marked as current diagnostic
Added comment: Not curated by ClinGen.

This is a CDG gene. Patients may present with DCM (among other phenotypes).

PMID 22242004 describes 11 young (5-13) patients with "predominantly nonsyndromic presentation of DCM".
Sources: Literature
Dilated Cardiomyopathy v0.43 CSRP3 Paul De Fazio reviewed gene: CSRP3: Rating: RED; Mode of pathogenicity: None; Publications: 12507422, 14567970, 19412328; Phenotypes: ?Cardiomyopathy, dilated, 1M MIM#607482; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v0.43 CRYAB Paul De Fazio changed review comment from: Not curated by ClinGen as of this review. Associated with DCM in OMIM but also myopathy and congenital cataracts (the association with the latter phenotypes is stronger).

3 independent individuals/families with DCM reported that I could find. 1 additional report of RCM.

PMID 16793013: 1 heterozygous missense variant in an individual with mild, late-onset DCM (200 patient cohort)
PMID 16793013: 1 heterozygous missense variant in a 71-year-old individual with DCM (130 patient cohort). Functional studies showed impared binding to TTN.
PMID 23590293: 1 heterozygous stop-loss variant identified in a family with congenital cataracts and DCM, although not all members of the family with the variant had DCM.
PMID 29253866: variant identified in an individual with restrictive cardiomyopathy (cohort study)

Amber in PanelApp GEL

I don't think there's sufficient evidence for an association with DCM so I am marking this red.; to: Not curated by ClinGen as of this review. Associated with DCM in OMIM but also myopathy and congenital cataracts (the association with the latter phenotypes is stronger).

3 independent individuals/families with DCM reported that I could find. 1 additional report of RCM.

PMID 16793013: 1 heterozygous missense variant in an individual with mild, late-onset DCM (200 patient cohort) (253 hets in gnomAD)
PMID 16483541: 1 heterozygous missense variant in a 71-year-old individual with DCM (130 patient cohort). Functional studies showed impared binding to TTN (18 hets in gnomad).
PMID 23590293: 1 heterozygous stop-loss variant identified in a family with congenital cataracts and DCM, although not all members of the family with the variant had DCM.
PMID 29253866: variant identified in an individual with restrictive cardiomyopathy (cohort study)

Amber in PanelApp GEL

I don't think there's sufficient evidence for an association with DCM so I am marking this red.
Dilated Cardiomyopathy v0.43 CRYAB Paul De Fazio reviewed gene: CRYAB: Rating: RED; Mode of pathogenicity: None; Publications: 16793013, 16483541, 23590293, 29253866; Phenotypes: Cardiomyopathy, dilated, 1II MIM#615184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Dilated Cardiomyopathy v0.43 CDH2 Paul De Fazio changed review comment from: Associated with ARVC. "Limited evidence" for ARVC by ClinGen.

Cardiac cell-specific knockout mice develop DCM (PMID: 15662031) but I can find no evidence of disease in humans.

Green in PanelApp GEL but did not achieve consensus green rating.
Sources: Literature; to: Associated with ARVC. "Limited evidence" for ARVC by ClinGen.

Cardiac cell-specific knockout mice develop DCM (PMID: 15662031) but I can find no evidence of DCM in humans.

Green in PanelApp GEL but did not achieve consensus green rating.
Sources: Literature
Dilated Cardiomyopathy v0.43 CDH2 Paul De Fazio gene: CDH2 was added
gene: CDH2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH2 were set to 28280076; 15662031
Phenotypes for gene: CDH2 were set to Arrhythmogenic right ventricular dysplasia, familial, 14 MIM#618920
Review for gene: CDH2 was set to RED
gene: CDH2 was marked as current diagnostic
Added comment: Associated with ARVC. "Limited evidence" for ARVC by ClinGen.

Cardiac cell-specific knockout mice develop DCM (PMID: 15662031) but I can find no evidence of disease in humans.

Green in PanelApp GEL but did not achieve consensus green rating.
Sources: Literature
Dilated Cardiomyopathy v0.43 ACTN2 Paul De Fazio gene: ACTN2 was added
gene: ACTN2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ACTN2 were set to 20474083; 25224718; 22253474; 14567970:
Phenotypes for gene: ACTN2 were set to Intrinsic cardiomyopathy
Review for gene: ACTN2 was set to AMBER
gene: ACTN2 was marked as current diagnostic
Added comment: Moderate evidence for "intrinsic cardiomyopathy" according to ClinGen. Associated with both HCM and DCM (same MIM# for both).

According to ClinGen; 12 unique heterozygous variants have been identified in the context of diverse cardiac phenotypes (HCM, DCM, LVNC, ventricular fibrillation).

In DCM:
PMID 20474083: 3 "variants of likely clinical significance" and 1 VUS, cohort study
PMID 14567970: missense variant in a child who died of DCM
PMID 25224718: 2 families with the same missense variant (same haplotype)

Rescues a DCM phenotype in Zebrafish (PMID: 22253474).

Green on PanelApp GEL but did not achieve consensus Green rating. Amber on PanelApp Aus HCM panel.
Sources: Literature
Dilated Cardiomyopathy v0.43 ANKRD1 Zornitza Stark Phenotypes for gene: ANKRD1 were changed from to Dilated cardiomyopathy
Dilated Cardiomyopathy v0.42 ANKRD1 Zornitza Stark Publications for gene: ANKRD1 were set to
Dilated Cardiomyopathy v0.41 ANKRD1 Zornitza Stark Mode of inheritance for gene: ANKRD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.40 ANKRD1 Zornitza Stark changed review comment from: Three missense variants, P105S, V107L, and M184I reported in 4 individuals in PMID: 19608030. However, note that P105S is present in 45 individuals in gnomad, and V107L in >200. Another 5 missense variants reported in PMID: 19525294. Of these, p.Thr116Met is present in 41 individuals in gnomad, p.Ala276Val in 745 individuals (and 6 homozygotes), p.Glu57Gln is present once, p.Arg66Gln is absent but an alternative change at same residue is present in >300, and p.Leu199Arg is absent. Overall, the population frequency of most of these variants is out of keeping for a Mendelian disorder.; to: DCM: Three missense variants, P105S, V107L, and M184I reported in 4 individuals in PMID: 19608030. However, note that P105S is present in 45 individuals in gnomad, and V107L in >200. Another 5 missense variants reported in PMID: 19525294. Of these, p.Thr116Met is present in 41 individuals in gnomad, p.Ala276Val in 745 individuals (and 6 homozygotes), p.Glu57Gln is present once, p.Arg66Gln is absent but an alternative change at same residue is present in >300, and p.Leu199Arg is absent. Overall, the population frequency of most of these variants is out of keeping for a Mendelian disorder.
Dilated Cardiomyopathy v0.40 ANKRD1 Zornitza Stark edited their review of gene: ANKRD1: Added comment: Three missense variants, P105S, V107L, and M184I reported in 4 individuals in PMID: 19608030. However, note that P105S is present in 45 individuals in gnomad, and V107L in >200. Another 5 missense variants reported in PMID: 19525294. Of these, p.Thr116Met is present in 41 individuals in gnomad, p.Ala276Val in 745 individuals (and 6 homozygotes), p.Glu57Gln is present once, p.Arg66Gln is absent but an alternative change at same residue is present in >300, and p.Leu199Arg is absent. Overall, the population frequency of most of these variants is out of keeping for a Mendelian disorder.; Changed publications: 19608030, 19525294; Changed phenotypes: Dilated cardiomyopathy; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.40 ANKRD1 Zornitza Stark Marked gene: ANKRD1 as ready
Dilated Cardiomyopathy v0.40 ANKRD1 Zornitza Stark Gene: ankrd1 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.40 ANKRD1 Zornitza Stark Classified gene: ANKRD1 as Red List (low evidence)
Dilated Cardiomyopathy v0.40 ANKRD1 Zornitza Stark Gene: ankrd1 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.39 ANKRD1 Zornitza Stark reviewed gene: ANKRD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Dilated Cardiomyopathy v0.39 ALPK3 Zornitza Stark Marked gene: ALPK3 as ready
Dilated Cardiomyopathy v0.39 ALPK3 Zornitza Stark Gene: alpk3 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.39 ALPK3 Zornitza Stark Mode of inheritance for gene: ALPK3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.38 ALPK3 Zornitza Stark Phenotypes for gene: ALPK3 were changed from to Cardiomyopathy, familial hypertrophic 27, MIM# 618052
Dilated Cardiomyopathy v0.37 ALPK3 Zornitza Stark Publications for gene: ALPK3 were set to
Dilated Cardiomyopathy v0.36 ALPK3 Zornitza Stark reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26846950, 27106955, 32480058; Phenotypes: Cardiomyopathy, familial hypertrophic 27, MIM# 618052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.36 JPH2 Zornitza Stark Tag founder tag was added to gene: JPH2.
Dilated Cardiomyopathy v0.36 JPH2 Zornitza Stark Marked gene: JPH2 as ready
Dilated Cardiomyopathy v0.36 JPH2 Zornitza Stark Added comment: Comment when marking as ready: Likely founder effect.
Dilated Cardiomyopathy v0.36 JPH2 Zornitza Stark Gene: jph2 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.36 JPH2 Zornitza Stark Classified gene: JPH2 as Red List (low evidence)
Dilated Cardiomyopathy v0.36 JPH2 Zornitza Stark Gene: jph2 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.35 JPH2 Ain Roesley gene: JPH2 was added
gene: JPH2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: JPH2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JPH2 were set to PMID: 31227780
Phenotypes for gene: JPH2 were set to dilated cardiomyopathy
Review for gene: JPH2 was set to AMBER
Added comment: 2 consanguineous Iranian families with DCM, harbouring homozygous p.(E641*) with healthy carriers reported.
Sources: Literature
Dilated Cardiomyopathy v0.35 SLC6A6 Zornitza Stark Marked gene: SLC6A6 as ready
Dilated Cardiomyopathy v0.35 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.35 SLC6A6 Zornitza Stark Classified gene: SLC6A6 as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.35 SLC6A6 Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.34 SLC6A6 Zornitza Stark gene: SLC6A6 was added
gene: SLC6A6 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034
Phenotypes for gene: SLC6A6 were set to Early retinal degeneration; cardiomyopathy
Review for gene: SLC6A6 was set to AMBER
Added comment: Different homozygous missense variants in 2 unrelated consanguineous families with early retinal degeneration, some functional studies. Patients in one of the families also had cardiomyopathy. (PMIDs: 31345061, 31903486) One dilated cardiomyopathy patient with a homozygous deletion at a splice site (PMID: 29886034).
Sources: Literature
Dilated Cardiomyopathy v0.33 SOD2 Zornitza Stark Marked gene: SOD2 as ready
Dilated Cardiomyopathy v0.33 SOD2 Zornitza Stark Gene: sod2 has been classified as Red List (Low Evidence).
Dilated Cardiomyopathy v0.33 SOD2 Zornitza Stark gene: SOD2 was added
gene: SOD2 was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: SOD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SOD2 were set to 31494578
Phenotypes for gene: SOD2 were set to Lethal neonatal dilated cardiomyopathy
Review for gene: SOD2 was set to RED
Added comment: Single patient from a consanguineous family, with functional evidence (reduced total SOD activity in patient cells, lenti-rescue experiment restored mitochondrial SOD (SOD2) activity). (PMID: 31494578)
Sources: Literature
Dilated Cardiomyopathy v0.32 NEBL Zornitza Stark Marked gene: NEBL as ready
Dilated Cardiomyopathy v0.32 NEBL Zornitza Stark Gene: nebl has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.32 NEBL Zornitza Stark Classified gene: NEBL as Green List (high evidence)
Dilated Cardiomyopathy v0.32 NEBL Zornitza Stark Gene: nebl has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.31 NEBL Zornitza Stark gene: NEBL was added
gene: NEBL was added to Dilated Cardiomyopathy. Sources: Literature
Mode of inheritance for gene: NEBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NEBL were set to 27186169
Phenotypes for gene: NEBL were set to Hypertrophic cardiomyopathy; dilated cardiomyopathy
Review for gene: NEBL was set to GREEN
Added comment: 7 patients from 6 unrelated families described with missense variants in this gene; some with HOCM, some with DCM.
Sources: Literature
Dilated Cardiomyopathy v0.30 PPCS Zornitza Stark changed review comment from: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein but not aimed at establishing gene-disease causation.
Sources: Expert list; to: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein; cardiac dysfunction in Drosophila model.
Sources: Expert list
Dilated Cardiomyopathy v0.30 PPCS Zornitza Stark Marked gene: PPCS as ready
Dilated Cardiomyopathy v0.30 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.30 PPCS Zornitza Stark Classified gene: PPCS as Amber List (moderate evidence)
Dilated Cardiomyopathy v0.30 PPCS Zornitza Stark Gene: ppcs has been classified as Amber List (Moderate Evidence).
Dilated Cardiomyopathy v0.29 PPCS Zornitza Stark gene: PPCS was added
gene: PPCS was added to Dilated Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: PPCS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPCS were set to 29754768
Phenotypes for gene: PPCS were set to Cardiomyopathy, dilated, 2C, MIM# 618189
Review for gene: PPCS was set to AMBER
Added comment: Five individuals from two unrelated families reported with missense variants. Functional studies in yeast to demonstrate impact of the variants on protein but not aimed at establishing gene-disease causation.
Sources: Expert list
Dilated Cardiomyopathy v0.28 DMD Zornitza Stark Marked gene: DMD as ready
Dilated Cardiomyopathy v0.28 DMD Zornitza Stark Gene: dmd has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.28 DMD Zornitza Stark Phenotypes for gene: DMD were changed from to Cardiomyopathy, dilated, 3B (MIM#302045)
Dilated Cardiomyopathy v0.27 DMD Zornitza Stark Publications for gene: DMD were set to
Dilated Cardiomyopathy v0.26 DMD Zornitza Stark Mode of inheritance for gene: DMD was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Dilated Cardiomyopathy v0.25 DMD Crystle Lee reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 26066469; Phenotypes: Cardiomyopathy, dilated, 3B (MIM#302045); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Dilated Cardiomyopathy v0.25 TTN Zornitza Stark reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22335739; Phenotypes: Cardiomyopathy, dilated, 1G, MIM#604145; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.25 TTN Zornitza Stark Marked gene: TTN as ready
Dilated Cardiomyopathy v0.25 TTN Zornitza Stark Gene: ttn has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.25 TTN Zornitza Stark Publications for gene: TTN were set to
Dilated Cardiomyopathy v0.24 TTN Zornitza Stark Phenotypes for gene: TTN were changed from to Cardiomyopathy, dilated, 1G, MIM#604145
Dilated Cardiomyopathy v0.23 TTN Zornitza Stark Mode of inheritance for gene: TTN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.22 TTN Elena Savva reviewed gene: TTN: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25589632, 28045975; Phenotypes: Cardiomyopathy, dilated, 1G, 604145, Cardiomyopathy, familial hypertrophic, 9, 613765, Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807, (LGMDR10), Myopathy, myofibrillar, 9, with early respiratory failure, 603689, Salih myopathy, 611705, Tibial muscular dystrophy, tardive, 600334; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.22 TNNI3K Zornitza Stark Marked gene: TNNI3K as ready
Dilated Cardiomyopathy v0.22 TNNI3K Zornitza Stark Added comment: Comment when marking as ready: At least 6 multigenerational families reported where variants segregated with disease.
Dilated Cardiomyopathy v0.22 TNNI3K Zornitza Stark Gene: tnni3k has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.22 TNNI3K Zornitza Stark Phenotypes for gene: TNNI3K were changed from Cardiac conduction disease with or without dilated cardiomyopathy 616117 to Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117
Dilated Cardiomyopathy v0.21 TNNI3K Zornitza Stark Classified gene: TNNI3K as Green List (high evidence)
Dilated Cardiomyopathy v0.21 TNNI3K Zornitza Stark Gene: tnni3k has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.20 TNNI3K Ivan Macciocca gene: TNNI3K was added
gene: TNNI3K was added to Dilated Cardiomyopathy. Sources: Expert list
Mode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNNI3K were set to 30010057; 29355681
Phenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy 616117
Review for gene: TNNI3K was set to GREEN
gene: TNNI3K was marked as current diagnostic
Added comment: mutliple families reported. Green on England PanelApp
Sources: Expert list
Dilated Cardiomyopathy v0.20 LAMP2 Zornitza Stark Marked gene: LAMP2 as ready
Dilated Cardiomyopathy v0.20 LAMP2 Zornitza Stark Gene: lamp2 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.20 LAMP2 Zornitza Stark Phenotypes for gene: LAMP2 were changed from to Danon disease, MIM#300257
Dilated Cardiomyopathy v0.19 LAMP2 Zornitza Stark Publications for gene: LAMP2 were set to
Dilated Cardiomyopathy v0.18 LAMP2 Zornitza Stark Mode of inheritance for gene: LAMP2 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Dilated Cardiomyopathy v0.17 LAMP2 Teresa Zhao reviewed gene: LAMP2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25228319, 27165304; Phenotypes: Danon disease, 300257; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Dilated Cardiomyopathy v0.17 RBM20 Zornitza Stark Marked gene: RBM20 as ready
Dilated Cardiomyopathy v0.17 RBM20 Zornitza Stark Gene: rbm20 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.17 RBM20 Zornitza Stark Phenotypes for gene: RBM20 were changed from to Cardiomyopathy, dilated, 1DD 613172 AD
Dilated Cardiomyopathy v0.16 RBM20 Zornitza Stark Publications for gene: RBM20 were set to
Dilated Cardiomyopathy v0.15 RBM20 Zornitza Stark Mode of inheritance for gene: RBM20 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.14 DSG2 Zornitza Stark Marked gene: DSG2 as ready
Dilated Cardiomyopathy v0.14 DSG2 Zornitza Stark Gene: dsg2 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.14 DSG2 Zornitza Stark Phenotypes for gene: DSG2 were changed from to Arrhythmogenic right ventricular dysplasia, 10, 610193; Cardiomyopathy, dilated, 1BB, 612877
Dilated Cardiomyopathy v0.13 DSG2 Zornitza Stark Publications for gene: DSG2 were set to
Dilated Cardiomyopathy v0.12 DSG2 Zornitza Stark Mode of inheritance for gene: DSG2 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.11 RBM20 Michelle Torres reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 30871351; Phenotypes: Cardiomyopathy, dilated, 1DD 613172 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Dilated Cardiomyopathy v0.11 DSG2 Kristin Rigbye reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23071725; Phenotypes: Arrhythmogenic right ventricular dysplasia, 10, 610193, Cardiomyopathy, dilated, 1BB, 612877; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.11 TNNI3 Zornitza Stark Marked gene: TNNI3 as ready
Dilated Cardiomyopathy v0.11 TNNI3 Zornitza Stark Gene: tnni3 has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.11 TNNI3 Zornitza Stark Phenotypes for gene: TNNI3 were changed from to ?Cardiomyopathy, dilated, 2A 611880; Cardiomyopathy, dilated, 1FF 613286; Cardiomyopathy, familial restrictive, 1115210; Cardiomyopathy, hypertrophic, 761369
Dilated Cardiomyopathy v0.10 TNNI3 Zornitza Stark Publications for gene: TNNI3 were set to
Dilated Cardiomyopathy v0.9 TNNI3 Zornitza Stark Mode of pathogenicity for gene: TNNI3 was changed from to Other
Dilated Cardiomyopathy v0.8 TNNI3 Zornitza Stark Mode of inheritance for gene: TNNI3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.7 TNNI3 Elena Savva reviewed gene: TNNI3: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 15607392; Phenotypes: ?Cardiomyopathy, dilated, 2A 611880, Cardiomyopathy, dilated, 1FF 613286, Cardiomyopathy, familial restrictive, 1115210, Cardiomyopathy, hypertrophic, 761369; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.7 Zornitza Stark Panel name changed from Dilated cardiomyopathy_DCM to Dilated Cardiomyopathy
Dilated Cardiomyopathy v0.5 Zornitza Stark Panel name changed from Dilated cardiomyopathy_VCGS to Dilated cardiomyopathy_DCM
Panel types changed to Victorian Clinical Genetics Services
Dilated Cardiomyopathy v0.4 LMNA Zornitza Stark Marked gene: LMNA as ready
Dilated Cardiomyopathy v0.4 LMNA Zornitza Stark Added comment: Comment when marking as ready: Heterozygous variants linked to DCM.
Dilated Cardiomyopathy v0.4 LMNA Zornitza Stark Gene: lmna has been classified as Green List (High Evidence).
Dilated Cardiomyopathy v0.4 LMNA Zornitza Stark Mode of pathogenicity for gene: LMNA was changed from to None
Dilated Cardiomyopathy v0.3 LMNA Zornitza Stark Phenotypes for gene: LMNA were changed from to Dilated cardiomyopathy
Dilated Cardiomyopathy v0.2 LMNA Zornitza Stark Mode of inheritance for gene: LMNA was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Dilated Cardiomyopathy v0.1 LMNA Zornitza Stark Mode of inheritance for gene: LMNA was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Dilated Cardiomyopathy v0.0 LMNA Teresa Zhao reviewed gene: LMNA: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 17377071; Phenotypes: Dilated cardiomyopathy, Charcot-Marie-Tooth disease, type 2B1, Emery-Dreifuss muscular dystrophy 2, Emery-Dreifuss muscular dystrophy 3, Heart-hand syndrome, Slovenian type, Hutchinson-Gilford, Lipodystrophy, familial partial, type 2, Malouf syndrome, Mandibuloacral dysplasia, congenital muscular dystrophy, lethal restrictive dermopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Dilated Cardiomyopathy v0.0 VCL Zornitza Stark gene: VCL was added
gene: VCL was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: VCL was set to Unknown
Dilated Cardiomyopathy v0.0 TTN Zornitza Stark gene: TTN was added
gene: TTN was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TTN was set to Unknown
Dilated Cardiomyopathy v0.0 TPM1 Zornitza Stark gene: TPM1 was added
gene: TPM1 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TPM1 was set to Unknown
Dilated Cardiomyopathy v0.0 TNNT2 Zornitza Stark gene: TNNT2 was added
gene: TNNT2 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNNT2 was set to Unknown
Dilated Cardiomyopathy v0.0 TNNI3 Zornitza Stark gene: TNNI3 was added
gene: TNNI3 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNNI3 was set to Unknown
Dilated Cardiomyopathy v0.0 TNNC1 Zornitza Stark gene: TNNC1 was added
gene: TNNC1 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TNNC1 was set to Unknown
Dilated Cardiomyopathy v0.0 TAZ Zornitza Stark gene: TAZ was added
gene: TAZ was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: TAZ was set to Unknown
Dilated Cardiomyopathy v0.0 SCN5A Zornitza Stark gene: SCN5A was added
gene: SCN5A was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: SCN5A was set to Unknown
Dilated Cardiomyopathy v0.0 RBM20 Zornitza Stark gene: RBM20 was added
gene: RBM20 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: RBM20 was set to Unknown
Dilated Cardiomyopathy v0.0 PLN Zornitza Stark gene: PLN was added
gene: PLN was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: PLN was set to Unknown
Dilated Cardiomyopathy v0.0 NEXN Zornitza Stark gene: NEXN was added
gene: NEXN was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: NEXN was set to Unknown
Dilated Cardiomyopathy v0.0 MYH7 Zornitza Stark gene: MYH7 was added
gene: MYH7 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYH7 was set to Unknown
Dilated Cardiomyopathy v0.0 MYBPC3 Zornitza Stark gene: MYBPC3 was added
gene: MYBPC3 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: MYBPC3 was set to Unknown
Dilated Cardiomyopathy v0.0 LMNA Zornitza Stark gene: LMNA was added
gene: LMNA was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LMNA was set to Unknown
Dilated Cardiomyopathy v0.0 LDB3 Zornitza Stark gene: LDB3 was added
gene: LDB3 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LDB3 was set to Unknown
Dilated Cardiomyopathy v0.0 LAMP2 Zornitza Stark gene: LAMP2 was added
gene: LAMP2 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAMP2 was set to Unknown
Dilated Cardiomyopathy v0.0 LAMA4 Zornitza Stark gene: LAMA4 was added
gene: LAMA4 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: LAMA4 was set to Unknown
Dilated Cardiomyopathy v0.0 ILK Zornitza Stark gene: ILK was added
gene: ILK was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ILK was set to Unknown
Dilated Cardiomyopathy v0.0 DSP Zornitza Stark gene: DSP was added
gene: DSP was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DSP was set to Unknown
Dilated Cardiomyopathy v0.0 DSG2 Zornitza Stark gene: DSG2 was added
gene: DSG2 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DSG2 was set to Unknown
Dilated Cardiomyopathy v0.0 DMD Zornitza Stark gene: DMD was added
gene: DMD was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DMD was set to Unknown
Dilated Cardiomyopathy v0.0 DES Zornitza Stark gene: DES was added
gene: DES was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DES was set to Unknown
Dilated Cardiomyopathy v0.0 CSRP3 Zornitza Stark gene: CSRP3 was added
gene: CSRP3 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CSRP3 was set to Unknown
Dilated Cardiomyopathy v0.0 CRYAB Zornitza Stark gene: CRYAB was added
gene: CRYAB was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: CRYAB was set to Unknown
Dilated Cardiomyopathy v0.0 BAG3 Zornitza Stark gene: BAG3 was added
gene: BAG3 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: BAG3 was set to Unknown
Dilated Cardiomyopathy v0.0 ANKRD1 Zornitza Stark gene: ANKRD1 was added
gene: ANKRD1 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ANKRD1 was set to Unknown
Dilated Cardiomyopathy v0.0 ALPK3 Zornitza Stark gene: ALPK3 was added
gene: ALPK3 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ALPK3 was set to Unknown
Dilated Cardiomyopathy v0.0 ACTC1 Zornitza Stark gene: ACTC1 was added
gene: ACTC1 was added to Dilated cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: ACTC1 was set to Unknown
Dilated Cardiomyopathy v0.0 Zornitza Stark Added panel Dilated cardiomyopathy_VCGS