| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cardiomyopathy_Paediatric v1.182 | ARSB | Zornitza Stark Marked gene: ARSB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.182 | ARSB | Zornitza Stark Gene: arsb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.182 | ARSB | Zornitza Stark Phenotypes for gene: ARSB were changed from MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease); Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200; Mucopolysaccharidosis Type VI; Mucopolysaccharidosis, Type VI; MUCOPOLYSACCHARIDOSIS TYPE 6 to mucopolysaccharidosis type 6, MONDO:0009661 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.181 | ARSB | Zornitza Stark Publications for gene: ARSB were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.180 | ARSB | Zornitza Stark reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 36495517, 32075597; Phenotypes: mucopolysaccharidosis type 6, MONDO:0009661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.0 | ARSB | Gene migrated from ENSG00000113273 to ENSG00000113273 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | ARSB |
Zornitza Stark gene: ARSB was added gene: ARSB was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,MetBioNet,Expert Review Green Mode of inheritance for gene: ARSB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSB were set to 27604308 Phenotypes for gene: ARSB were set to MPS VI, Maroteaux - Lamy disease (MPS IV, Morquio disease); Mucopolysaccharidosis type VI (Maroteaux-Lamy), 253200; Mucopolysaccharidosis Type VI; Mucopolysaccharidosis, Type VI; MUCOPOLYSACCHARIDOSIS TYPE 6 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||