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| Cardiomyopathy_Paediatric v1.336 | HGSNAT | Zornitza Stark Marked gene: HGSNAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.336 | HGSNAT | Zornitza Stark Gene: hgsnat has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.336 | HGSNAT | Zornitza Stark Phenotypes for gene: HGSNAT were changed from MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIIC; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Retinitis Pigmentosa 73 to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.335 | HGSNAT | Zornitza Stark edited their review of gene: HGSNAT: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.335 | HGSNAT | Zornitza Stark reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.0 | HGSNAT | Gene migrated from ENSG00000165102 to ENSG00000165102 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | HGSNAT |
Zornitza Stark gene: HGSNAT was added gene: HGSNAT was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber,MetBioNet Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HGSNAT were set to 27604308; 21048366 Phenotypes for gene: HGSNAT were set to MPS IIIC, Sanfilippo C disease (Mucopolysaccharidoses); Mucopolysaccharidosis Type III; Mucopolysaccharidosis Type IIIC; Mucopolysaccharidosis, Type III; Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930; Retinitis Pigmentosa 73 |
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