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| Lysosomal storage disorder v1.38 | HGSNAT | Sarah Leigh Added comment: Comment on phenotypes: Biallelic variants are also associated with Retinitis pigmentosa 73 OMIM:616544 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v1.38 | HGSNAT | Sarah Leigh Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 to Mucopolysaccharidosis type IIIC (Sanfilippo C) OMIM:252930; Sanfilippo syndrome type C MONDO:0009657 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | HGSNAT | Emma Ashton reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | HGSNAT | Carol Hardy reviewed gene: HGSNAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.2 | HGSNAT |
Ivone Leong gene: HGSNAT was added gene: HGSNAT was added to Lysosomal storage disorder. Sources: North London GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS Mode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C) 252930 |
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