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| Mendeliome v2.0 | LYSET | Gene symbol changed from TMEM251 to LYSET during gene set migration (ENSG00000153485 -> ENSG00000153485) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.4017 | TMEM251 |
Zornitza Stark edited their review of gene: TMEM251: Added comment: PMID 40171858: reports 2 siblings from an Iranian consanguineous family and six previously reported families (8 patients, 7 unrelated families) with biallelic loss‑of‑function LYSET variants presenting with MLII‑like mucolipidosis; core features include dysostosis multiplex, coarse facial features, hepatomegaly, joint contractures, developmental delay; mouse knockout recapitulates the phenotype, supporting gene‑disease causality. HGNC approved name is LYSET.; Changed rating: GREEN; Changed publications: 40171858 |
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