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| Lysosomal storage disorder v1.20 | CTSK | Sarah Leigh Phenotypes for gene: CTSK were changed from Pycnodysostosis 265800 to Pycnodysostosis OMIM:265800; pycnodysostosis MONDO:0009940 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | CTSK | Emma Ashton reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | CTSK | Carol Hardy reviewed gene: CTSK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Pycnodysostosis 265800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.2 | CTSK |
Ivone Leong gene: CTSK was added gene: CTSK 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: CTSK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTSK were set to Pycnodysostosis 265800 |
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