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| Arrhythmogenic Cardiomyopathy v2.0 | DSG2 | Gene migrated from ENSG00000046604 to ENSG00000046604 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.78 | DSG2 | Zornitza Stark Publications for gene: DSG2 were set to 33831308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.77 | DSG2 | Zornitza Stark Mode of inheritance for gene: DSG2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.76 | DSG2 |
Leah Frajman changed review comment from: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. Two additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).; to: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. Two additional families have been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638). |
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| Arrhythmogenic Cardiomyopathy v0.76 | DSG2 |
Leah Frajman changed review comment from: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. Two additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).; to: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. Two additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638). |
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| Arrhythmogenic Cardiomyopathy v0.76 | DSG2 |
Leah Frajman changed review comment from: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. Two additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638).; to: Very well reported homozygous founder variant (p.(Phe531Cys)) present in at least nine families with ARVC/D summary in Wei 2024 (PMID: 39253717). Chen 2018 reported 8 individuals homozygous for this variant, however 25% of their heterozygous relatives were were mildly affected (PMID: 30454721). Suggested that fully penetrant when homozygous, but reduced penetrance in the heterozygous state. Two additional families has been reported with the p.(Phe531Cys) in a compound heterozygous state with a multi-exon deletion, and a homozygous splice variant (PMID:33917638). |
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| Arrhythmogenic Cardiomyopathy v0.76 | DSG2 | Leah Frajman reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39253717, 30454721, 33917638; Phenotypes: Arrhythmogenic right ventricular dysplasia 10 (MIM#610193); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.52 | DSG2 | Zornitza Stark Publications for gene: DSG2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.47 | DSG2 | Ivan Macciocca reviewed gene: DSG2: Rating: ; Mode of pathogenicity: None; Publications: 33831308; Phenotypes: ARVC; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.34 | DSG2 | Zornitza Stark Marked gene: DSG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.34 | DSG2 | Zornitza Stark Gene: dsg2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.34 | DSG2 | Zornitza Stark Phenotypes for gene: DSG2 were changed from to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.33 | DSG2 | Zornitza Stark Mode of inheritance for gene: DSG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.32 | DSG2 | Zornitza Stark reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 10, MIM# 610193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic Cardiomyopathy v0.0 | DSG2 |
Zornitza Stark gene: DSG2 was added gene: DSG2 was added to Arrhythmogenic right ventricular cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DSG2 was set to Unknown |
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