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| Mucolipidosis II and III Alpha or Beta v1.2 | GNPTAB | Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #252500 & #252600) and the OMIM records were last accessed on 20 December 2025. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mucolipidosis II and III Alpha or Beta v1.2 | GNPTAB | Achchuthan Shanmugasundram Phenotypes for gene: GNPTAB were changed from to Mucolipidosis II alpha/beta, OMIM:252500; Mucolipidosis III alpha/beta, OMIM:252600; GNPTAB-mucolipidosis, MONDO:0100122 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mucolipidosis II and III Alpha or Beta v0.1 | GNPTAB | Achchuthan Shanmugasundram reviewed gene: GNPTAB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mucolipidosis II and III Alpha or Beta v0.1 | GNPTAB |
Achchuthan Shanmugasundram gene: GNPTAB was added gene: GNPTAB was added to Mucolipidosis II and III Alpha/Beta. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal |
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