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| Cardiomyopathy_Paediatric v1.345 | SGSH | Zornitza Stark Marked gene: SGSH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.345 | SGSH | Zornitza Stark Gene: sgsh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.169 | SGSH | Lucy Spencer Phenotypes for gene: SGSH were changed from Mucopolysaccharidosis Type IIIA; Mucopolysaccharidosis Type III; MUCOPOLYSACCHARIDOSIS TYPE 3A; MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type III to Mucopolysaccharidosis type IIIA (Sanfilippo A) MIM#252900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.168 | SGSH | Lucy Spencer Publications for gene: SGSH were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.167 | SGSH | Lucy Spencer reviewed gene: SGSH: Rating: AMBER; Mode of pathogenicity: None; Publications: 2789611:40160092; Phenotypes: Mucopolysaccharidosis type IIIA (Sanfilippo A) MIM#252900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.0 | SGSH | Gene migrated from ENSG00000181523 to ENSG00000181523 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | SGSH |
Zornitza Stark gene: SGSH was added gene: SGSH was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SGSH were set to 27604308 Phenotypes for gene: SGSH were set to Mucopolysaccharidosis Type IIIA; Mucopolysaccharidosis Type III; MUCOPOLYSACCHARIDOSIS TYPE 3A; MPS IIIA, Sanfilippo A disease (Mucopolysaccharidoses); Mucopolysaccharidosis, Type III |
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