| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cardiomyopathy_Paediatric v0.172 | ABCC9 | Zornitza Stark Marked gene: ABCC9 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.172 | ABCC9 | Zornitza Stark Gene: abcc9 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.172 | ABCC9 | Zornitza Stark Phenotypes for gene: ABCC9 were changed from Cardiomyopathy, dilated, 1O; Dilated Cardiomyopathy, Dominant to Hypertrichotic osteochondrodysplasia (Cantu syndrome), MIM# 239850; Cardiomyopathy, dilated, 1O; Dilated Cardiomyopathy, Dominant | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.171 | ABCC9 | Zornitza Stark Publications for gene: ABCC9 were set to 15034580 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.170 | ABCC9 | Zornitza Stark reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrichotic osteochondrodysplasia (Cantu syndrome), MIM# 239850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.170 | ABCC9 | Chern Lim edited their review of gene: ABCC9: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.170 | ABCC9 | Chern Lim reviewed gene: ABCC9: Rating: AMBER; Mode of pathogenicity: None; Publications: 27532257, 28991257, 36129056, 31575858, 15034580; Phenotypes: Hypertrichotic osteochondrodysplasia (Cantu syndrome) (MIM#239850), AD, Intellectual disability and myopathy syndrome (MIM#619719), AR, Cardiomyopathy, dilated, 1O (MIM#608569), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | ABCC9 |
Zornitza Stark gene: ABCC9 was added gene: ABCC9 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: ABCC9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ABCC9 were set to 15034580 Phenotypes for gene: ABCC9 were set to Cardiomyopathy, dilated, 1O; Dilated Cardiomyopathy, Dominant |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||