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| Lysosomal storage disorder v1.43 | LIPA | Sarah Leigh Phenotypes for gene: LIPA were changed from Cholesteryl ester storage disease 278000; Wolman disease 278000 to Cholesteryl ester storage disease OMIM:278000; Wolman disease OMIM:278000; lysosomal acid lipase deficiency MONDO:0010204 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | LIPA | Emma Ashton reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | LIPA | Carol Hardy reviewed gene: LIPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cholesteryl ester storage disease 278000, Wolman disease 278000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.2 | LIPA |
Ivone Leong gene: LIPA was added gene: LIPA 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: LIPA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LIPA were set to Cholesteryl ester storage disease 278000; Wolman disease 278000 |
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