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| Lysosomal storage disorder v1.44 | MAN2B1 | Sarah Leigh Phenotypes for gene: MAN2B1 were changed from Mannosidosis, alpha-, types I and II 248500 to Mannosidosis, alpha-, types I and II OMIM:248500; alpha-mannosidosis MONDO:0009561 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | MAN2B1 | Emma Ashton reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.3 | MAN2B1 | Carol Hardy reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Mannosidosis, alpha-, types I and II 248500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lysosomal storage disorder v0.2 | MAN2B1 |
Ivone Leong gene: MAN2B1 was added gene: MAN2B1 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: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II 248500 |
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