| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v0.12910 | SGCD | Zornitza Stark Marked gene: SGCD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12910 | SGCD | Zornitza Stark Gene: sgcd has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12910 | SGCD | Zornitza Stark Phenotypes for gene: SGCD were changed from to Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287; autosomal recessive limb-girdle muscular dystrophy MONDO:0015152 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12909 | SGCD | Zornitza Stark Publications for gene: SGCD were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12908 | SGCD | Zornitza Stark Mode of inheritance for gene: SGCD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12907 | SGCD | Zornitza Stark changed review comment from: Association with LGMD is DEFINITIVE by ClinGen.; to: Association with LGMD is DEFINITIVE by ClinGen. More than 10 unrelated families reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12907 | SGCD | Zornitza Stark reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841194, 19259135, 20623375, 10838250, 10735275, 9832045, 30733730; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287, autosomal recessive limb-girdle muscular dystrophy MONDO:0015152; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12859 | SGCD |
Samantha Ayres edited their review of gene: SGCD: Added comment: Variants identified in multiple cases of cardiomyopathy, however most are too common in the general population to explain the disease. First described in the literature with potential association to cardiomyopathy in 2000 (Tsubata et al 10974018). Case-control study by Mazzarotto et al 2020, did not identify enrichment of SGCD in DCM cohort. Animal models demonstrate mild cardiomyopathy phenotype. Curated as 'limited' gene-disease association by ClinGen; Changed rating: RED; Changed publications: 10974018, 31983221, 23695275; Changed phenotypes: Cardiomyopathy, dilated, 1L, MIM#606685, dilated cardiomyopathy MONDO:0005021; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Mendeliome v0.12859 | SGCD | Samantha Ayres reviewed gene: SGCD: Rating: GREEN; Mode of pathogenicity: None; Publications: 8841194, 30733730, 10838250; Phenotypes: autosomal recessive limb-girdle muscular dystrophy MONDO:0015152, Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM#601287; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | SGCD |
Zornitza Stark gene: SGCD was added gene: SGCD was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SGCD was set to Unknown |
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