| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 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 v0.0 | 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||